MSC Gene
protein-coding GIFtS : 56
GCID: GC08 M072803
musculin (Previous name: musculin (activated B-cell factor-1) )
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Aliasesfor MSC gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Musculin 1 MYOR2 ABF-11 2 3 Activated B-Cell Factor 1, Homolog Of Mouse Musculin2 BHLHa221 Activated B-Cell Factor-12 Class A Basic Helix-Loop-Helix Protein 222 3 BHLHA223 ABF12 3 Activated B-Cell Factor 13 Musculin (Activated B-Cell Factor-1)1
Export aliases for MSC gene to outside databases Previous GC identifers: GC08M071836 GC08M072694 GC08M072476 GC08M072916 GC08M068248
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Summariesfor MSC gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for MSC : The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: MUSC_HUMAN, O60682 Function : Transcription repressor capable of inhibiting the transactivation capability of TCF3/E47. May play a role inregulating antigen-dependent B-cell differentiation Gene Wiki entry for MSC
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Genomic Viewsfor MSC gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000008.10 NC_018919.1 NT_008183.19 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the MSC gene promoter: HFH-3 AP-1 ATF-2 MyoD IRF-1 C/EBPalpha FOXI1 c-Jun Other transcription factors Search SABiosciences Chromatin IP Primers for MSC Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat MSC
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 8q21 Ensembl cytogenetic band: 8q13.3 HGNC cytogenetic band: 8q21 MSC Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 8 GeneLoc Exon Structure
GeneLoc location for GC08M072803: view genomic region
(about GC identifiers )
Start:
72,753,777 bp from pter
End:
72,756,731 bp from pter
Size:
2,955 bases
Orientation:
minus strand
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Proteinsfor MSC gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: MUSC_HUMAN, O60682 (See
protein sequence )Recommended Name: Musculin Size : 206 amino acids; 22068 Da
Subunit : Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a homodimer or aheterodimer. Forms a heterodimer with TCF3
Subcellular location : Nucleus
Sequence caution : Sequence=AAC15071.1; Type=Frameshift; Positions=189;
Secondary accessions : O75946 Q53XZ2 Q9BRE7Explore the universe of human proteins at neXtProt for MSC: NX_O60682 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_O60682 MSC Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_005089.2 ENSEMBL proteins: ENSP00000321445 Human Recombinant Protein Products: Gene Ontology (GO): 1 cellular component term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005634 nucleus
IEA --
MSC for ontologies About GeneDecksing MSC Antibody Products: Assay Products for MSC:
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Protein
Domains / Familiesfor MSC gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
MSC for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry O60682 ProtoNet protein and cluster: O60682
1 Blocks protein family : IPB001092 Basic helix-loop-helix dimerization domain bHLH UniProtKB/Swiss-Prot: MUSC_HUMAN, O60682 Similarity : Contains 1 bHLH (basic helix-loop-helix) domain
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Functionfor MSC gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: MUSC_HUMAN, O60682 Function : Transcription repressor capable of inhibiting the transactivation capability of TCF3/E47. May play a role inregulating antigen-dependent B-cell differentiation
Genatlas biochemistry entry for MSC : activated B cell factor 1,musculin,mouse homolog,predominantly expressed in a subset of lymphoid tissues in adult and activated B cells,maybe involved in regulating antigen-dependent B cell differentiation Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for MSC (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MSCOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: MSC (NM_005098 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MSC Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MSC
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSC
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view) : About this table
MSC for ontologies About GeneDecksing Animal Models: Mouse knock-out Msc tm1Eno for MSC 5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Msc) :
MSC for phenotypes About GeneDecksing
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Pathways & Interactionsfor MSC gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways   About this table See pathways by source Super-pathway contained gene-specific pathways 1 Id Signaling Pathway
1 BioSystems Pathway for MSC Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MSC STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)5/8 Interacting proteins for MSC (O60682 2 , 3 ENSP00000321445 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 8 )About this table Gene Ontology (GO): 5 biological process terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0006355 regulation of transcription, DNA-dependent
-- -- GO:0006366 transcription from RNA polymerase II promoter
TAS 9584154 GO:0014707 branchiomeric skeletal muscle development
IEA -- GO:0060021 palate development
IEA -- GO:0060539 diaphragm development
IEA --
MSC for ontologies About GeneDecksing
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Drugs & Compoundsfor MSC gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section Browse Tocris compounds for MSC Search CenterWatch for drugs/clinical trials and news about MSC / MUSC
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Transcriptsfor MSC gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for MSC gene: NM_005098.3 Unigene Cluster for MSC:
Musculin Hs.442619 [show with all ESTs ] Unigene Representative Sequence: NM_005098 3 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000325509 (uc003xyx.1 ) ENST00000518440 ENST00000521739 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for MSC (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MSCOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: MSC (NM_005098 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MSC Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MSC
Additional cDNA sequence: AF060154.1 AF087036.1 AK313102.1 BC006313.2 BC067827.1 BT007169.1
7 DOTS entries : DT.441856 DT.102831245
DT.202475 DT.92427684 DT.92427683 DT.100682158 DT.92427679 24/132 AceView cDNA sequences (see all 132 ):
AW241565 AI298650 CB217106 AI651393 BX115600 CA443950 AI583179 BC067827 BM725166 BP374600 CD367304 AI380115 AI819367 CR594663 CR593021 CR622554 BC006313 CD366733 AA732935 CA423951 CD366829 CB993931 AI924582 BI759659 GeneLoc Exon Structure
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Expression for MSC gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section MSC expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GCCATTCGTG
About this image MSC expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See MSC Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for MSC SOURCE GeneReport for Unigene cluster: Hs.442619 UniProtKB/Swiss-Prot: MUSC_HUMAN, O60682 Tissue specificity : Expressed in lymphoid tissues, B-cell lines and activated B-cells SABiosciences Expression via Pathway-Focused PCR Array including MSC : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for MSCBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat MSC QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat MSC QIAGEN QuantiFast Probe-based Assays in human , mouse , rat MSC In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSC
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Orthologsfor MSC gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for MSC gene from 4/15 species (see all 15 ) About this table
ENSEMBL Gene Tree for MSC (if available)TreeFam Gene Tree for MSC (if available)
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Paralogsfor MSC gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for MSC gene TCF24 2 NHLH1 2 TWIST1 2 TAL1 2 TWIST2 2 HAND2 2 TCF23 2 LYL1 2 NHLH2 2 TAL2 2 TCF15 2 SCXB 2 TCF21 2 HAND1 2 SCXA 2 1 SIMAP similar gene for MSC using alignment to 1 protein entry: MUSC_HUMAN :TCF21
MSC for paralogs About GeneDecksing
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Genomic Variantsfor MSC gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 8 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for MSC (72753777 - 72756731 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for MSC 1 CNV : 7705
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing MSC
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Disorders
/ Diseasesfor MSC gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
MSC for disorders About GeneDecksing
OMIM gene information: 603628
OMIM disorders : --8 diseases for MSC : About MalaCards diffuse large b-cell lymphoma b-cell lymphomas dendritic cell thymoma cerebral artery occlusion burkitt's lymphoma follicular lymphoma rhabdomyosarcoma cerebritis 1 disease from the University of Copenhagen DISEASES database for MSC :Hodgkin's lymphoma Human Genome Epidemiology (HuGE) Navigator: MSC (58 documents) Export disorders for MSC gene to outside databases
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Publicationsfor MSC gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for MSC gene, integrated from 9 sources (see all 20 ): (articles sorted by number of sources associating them with MSC) Utopia : connect your pdf to the dynamic world of online information
Characterization of ABF-1, a novel basic helix-loop-helix transcription factor expressed in activated B lymphocytes. (PubMed id 9584154) 1 , 2 , 3, 9 Massari M.E.... Murre C. (1998) Musculin: a murine basic helix-loop-helix transcription factor gene expressed in embryonic skeletal muscle. (PubMed id 9767165) 1 , 2 , 9 Robb L.... Begley C.G. (1998) Assignment of the human helix-loop-helix transcription factor gene musculin/activated B-cell factor-1 (MSC) to chromosome 8q21 and its mouse homologue (Msc) to the proximal region of chromosome 1. (PubMed id 10198176) 1 , 3, 9 Robb L....Harvey R.P. (1999) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) Allele-specific repression of lymphotoxin-alpha by activated B cell factor-1. (PubMed id 15052269) 1 , 9 Knight J.C....Kwiatkowski D.P. (2004) Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891) 1 Jugessur A....Murray J.C. (2010) ABF-1 is frequently silenced by promoter methylation in follicular lymphoma, diffuse large B-cell lymphoma and Burkitt's lymphoma. (PubMed id 18368067) 1 Ushmorov A....Wirth T. (2008) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560) 1 Kimura K.... Sugano S. (2006) Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514) 1 Rual J.F....Vidal M. (2005) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002)
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External Searches for MSC gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing MSC gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing MSC gene
(According to HUGE )
About This Section --
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Specialized Databases showing MSC gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for MSC Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for MSC gene: Search GeneIP for patents involving MSC GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor MSC gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for MSC OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for MSC OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for MSC OriGene Protein Over-expression Lysate for MSC Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for MSC OriGene 3'-UTR Clone for MSC OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for MSC OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for MSC Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for MSC OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for MSC OriGene Custom Protein Services for MSC OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MSC QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing MSC QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat MSC QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat MSC QIAGEN QuantiFast Probe-based Assays in human , mouse , rat MSC QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat MSC
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MSC Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSC
ThermoFisher Antibodies for MSC
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MSC
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