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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CEP57L1 Gene

protein-coding   GIFtS: 41
GCID: GC06P109418

centrosomal protein 57kDa-like 1

(Previous name: chromosome 6 open reading frame 182 )
(Previous symbol: C6orf182)
 Explore 1 disease affiliated with
CEP57L1 via our new
 Human Malady Compendium 
Biological research products
for CEP57L1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Centrosomal Protein 57kDa-Like 11 2     MGC217311
C6orf1821 2 3     Chromosome 6 Open Reading Frame 1821
BA487F23.21     Centrosomal Protein CEP57L12
Centrosomal Protein 57kDa-Like Protein 12 3     Cep57R3
Centrosomal Protein Of 57 KDa-Related Protein2 3     CEP57R3
Cep57-Related Protein2 3     Cep57R3

External Ids:    HGNC: 215611   Entrez Gene: 2857532   Ensembl: ENSG000001831377   UniProtKB: Q8IYX83   

Export aliases for CEP57L1 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: CE57L_HUMAN, Q8IYX8
Function: Centrosomal protein which may be required for microtubule attachment to centrosomes (By similarity)




(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_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CEP57L1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCEP57L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CEP57L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CEP57L1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q21   HGNC cytogenetic band: 6q21

CEP57L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEP57L1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P109418:  view genomic region     (about GC identifiers)

Start:
109,416,313 bp from pter      End:
109,485,135 bp from pter
Size:
68,823 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, 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: CE57L_HUMAN, Q8IYX8 (See protein sequence)
Recommended Name: Centrosomal protein CEP57L1  
Size: 460 amino acids; 53649 Da
Subcellular location: Cytoplasm, cytoskeleton, centrosome (By similarity)

Explore the universe of human proteins at neXtProt for CEP57L1: NX_Q8IYX8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IYX8

  • CEP57L1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001077004.1  NP_001258781.1  NP_001258782.1  NP_776191.1  

    ENSEMBL proteins: 
     ENSP00000430558   ENSP00000427844   ENSP00000429812   ENSP00000430402   ENSP00000429402  
     ENSP00000430265   ENSP00000428344   ENSP00000427771   ENSP00000428464   ENSP00000431113  
     ENSP00000430565   ENSP00000430911   ENSP00000428668   ENSP00000357964   ENSP00000429957  
     ENSP00000430013   ENSP00000357966   ENSP00000430011   ENSP00000430529   ENSP00000428682  
     ENSP00000383936   ENSP00000337392   ENSP00000352841  

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    Novus Biologicals CEP57L1 Lysates
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    Uscn Proteins for CEP57L1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005737cytoplasm IEA--
    GO:0005815microtubule organizing center IEA--
    GO:0005874microtubule IEA--


    CEP57L1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CEP57L1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR024957 Cep57_MT-bd_dom
     IPR025913 Cep57_CLD
     IPR010597 Centrosomal_protein_57kDa

    Graphical View of Domain Structure for InterPro Entry Q8IYX8

    ProtoNet protein and cluster: Q8IYX8

    UniProtKB/Swiss-Prot: CE57L_HUMAN, Q8IYX8
    Similarity: Belongs to the translokin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, 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: CE57L_HUMAN, Q8IYX8
    Function: Centrosomal protein which may be required for microtubule attachment to centrosomes (By similarity)

    miRNA
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    hsa-miR-3673 hsa-miR-340 hsa-miR-548aa hsa-miR-656 hsa-miR-548t hsa-miR-542-3p hsa-miR-494 hsa-miR-497*
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP57L1

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0008017microtubule binding IEA--
    GO:0042802identical protein binding IEA--
    GO:0043015gamma-tubulin binding IEA--


    CEP57L1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for CEP57L1:
     Elongated cells  Increased HPV18 LCR reporter a 


    (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 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CEP57L1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/7 Interacting proteins for CEP57L1 (Q8IYX83 ENSP000003528414) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DISC1Q9NRI53, ENSP000003555964I2D: score=2 STRING: ENSP00000355596
    CEP55Q53EZ43I2D: score=1 
    IDH1O758743I2D: score=1 
    MID2Q9UJV33I2D: score=1 
    VPS28Q9UK413I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--
    GO:0034453microtubule anchoring IEA--


    CEP57L1 for ontologies           About GeneDecksing



    (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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CEP57L1
    Search CenterWatch for drugs/clinical trials and news about CEP57L1 / CE57L 

    (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 CEP57L1 gene (4 alternative transcripts): 
    NM_001083535.1  NM_001271852.1  NM_001271853.1  NM_173830.4  

    Unigene Cluster for CEP57L1:

    Centrosomal protein 57kDa-like 1
    Hs.632616  [show with all ESTs]
    Unigene Representative Sequence: NM_001083535
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000521277 ENST00000521737 ENST00000517392(uc003psw.4 uc003psx.4 uc010kdl.3)
    ENST00000519286 ENST00000518329 ENST00000522461 ENST00000518853 ENST00000521522
    ENST00000524064 ENST00000522608 ENST00000521503 ENST00000519407 ENST00000519095
    ENST00000520610 ENST00000368968 ENST00000522490 ENST00000523209 ENST00000368970


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    hsa-miR-3673 hsa-miR-340 hsa-miR-548aa hsa-miR-656 hsa-miR-548t hsa-miR-542-3p hsa-miR-494 hsa-miR-497*
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK027189.1 AK092723.1 AK094192.1 AK289910.1 BC033448.2 BC064365.1 

    11 DOTS entries:

    DT.403859  DT.216690  DT.201755  DT.100788415  DT.100788414  DT.75185602  DT.121323677  DT.97839464 
    DT.100682063  DT.100732914  DT.100788417 

    24/78 AceView cDNA sequences (see all 78):

    AW592456 BC064365 AW263565 BU154996 BQ960457 BM905243 BC033448 CK300955 
    AA319864 BQ049422 BM511539 BM787514 N41356 CB529611 BM510700 NM_173830 
    AK094192 CR602009 AA724771 BG285261 CK905946 BQ272290 N90217 BQ425157 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CEP57L1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7
    SP1:                                                      
    SP2:                    -     -                           
    SP3:                                                      
    SP4:              -                                       


    ECgene alternative splicing isoforms for CEP57L1

    (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

    CEP57L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CEP57L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CEP57L1

    SOURCE GeneReport for Unigene cluster: Hs.632616
        SABiosciences Custom PCR Arrays for CEP57L1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEP57L1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CEP57L1 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cep57l11 , 5 centrosomal protein 57-like 11, 5 79.64(n)1
    74.36(a)1
      10 (22.69 cM)5
    1032681  NM_029132.21  NP_083408.11 
     417188405 
    chicken
    (Gallus gallus)
    Aves CEP57L16
    Uncharacterized protein
    47(a)
    1 ↔ 1
    3(69688225-69700997)
    lizard
    (Anolis carolinensis)
    Reptilia CEP57L16
    --
    47(a)
    1 ↔ 1
    1(190996248-191010676)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.114512 Transcribed sequence with weak similarity to protein refNP_055494.1 (H.sapiens) KIAA0092 gene product [Homo sapiens] less 72.5(n)    AL877269.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.39622 Transcribed sequence with weak similarity to protein refNP_055494.1 (H.sapiens) KIAA0092 gene product [Homo sapiens] less 71.2(n)    CA474403.1 


    ENSEMBL Gene Tree for CEP57L1 (if available)
    TreeFam Gene Tree for CEP57L1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CEP57L1 gene
    CEP572  
    2 SIMAP similar genes for CEP57L1 using alignment to 19 protein entries:     CE57L_HUMAN (see all proteins):
    C6orf182    CEP57

    CEP57L1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CEP57L1
    PGOHUM00000256660


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 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

    10/1066 NCBI SNPs in CEP57L1 are shown (see all 1066    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1511936181,2
    --109417825(+) TTTACA/GTCGTT 1 -- int10--------
    rs776140131,2
    F,--109417971(+) AAGCAA/GAACAA 1 -- int11Minor allele frequency- G:0.06WA 118
    rs773736141,2
    F,--109418075(+) TGCCGT/CAGTTA 1 -- int11Minor allele frequency- C:0.07NA 120
    rs1836291551,2
    --109418191(+) TCTTCC/TTGGAT 1 -- int10--------
    rs1866381421,2
    --109418204(+) CTCAAA/TAGCAT 1 -- int10--------
    rs1136422981,2
    --109418315(+) TACTTG/TTGAAA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1918425571,2
    --109418371(+) CTTCTA/GTGGCC 1 -- int10--------
    rs1839062931,2
    --109418597(+) TGGTGG/TCCTAC 1 -- int10--------
    rs1894630711,2
    --109418599(+) GTGTCC/TTACTA 1 -- int10--------
    rs1470021441,2
    --109418672(+) CATATA/GTTGCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for CEP57L1 (109416313 - 109485135 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CEP57L1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CEP57L1
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    (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

    CEP57L1 for disorders           About GeneDecksing

    1 disease for CEP57L1:    About MalaCards
    schizophrenia


    Export disorders for CEP57L1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CEP57L1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CEP57L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    3. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    4. Cep57, a multidomain protein with unique microtubule and centrosomal localization domains. (PubMed id 18294141)2 Momotani K....Somlyo A.V. (2008)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    6. Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. (PubMed id 17043677)1 Camargo L.M....Brandon N.J. (2007)
    7. 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)
    8. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 285753 HGNC: 21561 AceView: C6orf182 Ensembl:ENSG00000183137 euGenes: HUgn285753
    ECgene: CEP57L1 H-InvDB: CEP57L1

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for CEP57L1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CEP57L1 gene:
    Search GeneIP for patents involving CEP57L1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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),
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