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Cellosaurus GM12878 (CVCL_7526)

Cell line name GM12878
Accession CVCL_7526
Resource Identification Initiative To cite this cell line use: GM12878 (RRID:CVCL_7526)
Comments Part of: CEPH/Utah pedigree cell line collection.
Part of: ENCODE project common cell types; tier 1.
Part of: Genetic Testing Reference Material (GeT-RM) samples.
Part of: Genome in a Bottle (GIAB) consortium samples.
Part of: International Genome Sample Resource (1000 genomes project) cell lines.
Registration: CEPH Families Reference Panel; 146302.
Registration: National Institute of Standards and Technology, Standard Reference Materials; HG001.
Population: Utah residents with ancestry from Northern and Western Europe.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: CNV analysis.
Omics: Deep exome analysis.
Omics: Deep proteome analysis.
Omics: DNA methylation analysis.
Omics: Deep RNAseq analysis.
Omics: Genome sequenced.
Omics: H3K27ac ChIP-seq epigenome analysis.
Omics: H3K27me3 ChIP-seq epigenome analysis.
Omics: H3K36me3 ChIP-seq epigenome analysis.
Omics: H3K4me1 ChIP-seq epigenome analysis.
Omics: H3K4me2 ChIP-seq epigenome analysis.
Omics: H3K4me3 ChIP-seq epigenome analysis.
Omics: H3K79me2 ChIP-seq epigenome analysis.
Omics: H3K9ac ChIP-seq epigenome analysis.
Omics: H3K9me3 ChIP-seq epigenome analysis.
Omics: H4K20me1 ChIP-seq epigenome analysis.
Omics: Mitochondrial genome sequenced.
Omics: SNP array analysis.
Omics: Transcriptome analysis.
Sequence variations CYP2C19 p.Pro227Pro (c.681G>A); cryptic splice acceptor activation, allele CYP2C19*2 (Coriell).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_N800 (GM12878-XiMat clone 16)CVCL_N801 (GM12878-XiMat clone 56)
Sex of cell Female
Age at sampling Age unspecified
Category Transformed cell line
Web pages http://genome.ucsc.edu/ENCODE/protocols/cell/human/GM12878_protocol.pdf
http://www.completegenomics.com/documents/PublicGenomes.pdf
https://www.ncbi.nlm.nih.gov/variation/tools/get-rm/
http://www.cephb.fr/en/familles_CEPH.php
Publications

PubMed=17122850; DOI=10.1038/nature05329
Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., Fiegler H., Shapero M.H., Carson A.R., Chen W., Cho E.K., Dallaire S., Freeman J.L., Gonzalez J.R., Gratacos M., Huang J., Kalaitzopoulos D., Komura D., MacDonald J.R., Marshall C.R., Mei R., Montgomery L., Nishimura K., Okamura K., Shen F., Somerville M.J., Tchinda J., Valsesia A., Woodwark C., Yang F., Zhang J., Zerjal T., Zhang J., Armengol L., Conrad D.F., Estivill X., Tyler-Smith C., Carter N.P., Aburatani H., Lee C., Jones K.W., Scherer S.W., Hurles M.E.
Global variation in copy number in the human genome.
Nature 444:444-454(2006)

PubMed=19043577; DOI=10.1371/journal.pgen.1000287
Choy E., Yelensky R., Bonakdar S., Plenge R.M., Saxena R., De Jager P.L., Shaw S.Y., Wolfish C.S., Slavik J.M., Cotsapas C., Rivas M., Dermitzakis E.T., Cahir-McFarland E., Kieff E., Hafler D., Daly M.J., Altshuler D.
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.
PLoS Genet. 4:E1000287-E1000287(2008)

PubMed=20856902; DOI=10.1371/journal.pbio.1000480
Cheung V.G., Nayak R.R., Wang I.X., Elwyn S., Cousins S.M., Morley M., Spielman R.S.
Polymorphic cis- and trans-regulation of human gene expression.
PLoS Biol. 8:E1000480-E1000480(2010)

PubMed=21418647; DOI=10.1186/gb-2011-12-3-r25
Morcos L., Ge B., Koka V., Lam K.C., Pokholok D.K., Gunderson K.L., Montpetit A., Verlaan D.J., Pastinen T.
Genome-wide assessment of imprinted expression in human cells.
Genome Biol. 12:R25.1-R25.14(2011)

PubMed=23325432; DOI=10.1101/gr.147942.112
Varley K.E., Gertz J., Bowling K.M., Parker S.L., Reddy T.E., Pauli-Behn F., Cross M.K., Williams B.A., Stamatoyannopoulos J.A., Crawford G.E., Absher D.M., Wold B.J., Myers R.M.
Dynamic DNA methylation across diverse human cell lines and tissues.
Genome Res. 23:555-567(2013)

PubMed=23676674; DOI=10.1038/nature12223
Wu L., Candille S.I., Choi Y., Xie D., Jiang L., Li-Pook-Than J., Tang H., Snyder M.
Variation and genetic control of protein abundance in humans.
Nature 499:79-82(2013)

PubMed=24185094; DOI=10.1038/nbt.2728
Selvaraj S., Dixon J.R., Bansal V., Ren B.
Whole-genome haplotype reconstruction using proximity-ligation and shotgun sequencing.
Nat. Biotechnol. 31:1111-1118(2013)

PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005
Pratt V.M., Everts R.E., Aggarwal P., Beyer B.N., Broeckel U., Epstein-Baak R., Hujsak P., Kornreich R., Liao J., Lorier R., Scott S.A., Smith C.H., Toji L.H., Turner A., Kalman L.V.
Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: a GeT-RM collaborative project.
J. Mol. Diagn. 18:109-123(2016)

Cross-references
Cell line collections Coriell; GM12878
Ontologies CLO; CLO_0022851
EFO; EFO_0002784
Biological sample resources 4DN; 4DNSRH17RFKR
4DN; 4DNSRVWZS4XO
BioSample; SAMN00000339
BioSample; SAMN00801888
ENCODE; ENCBS004QBB
ENCODE; ENCBS011ZCV
ENCODE; ENCBS036HXX
ENCODE; ENCBS057BBL
ENCODE; ENCBS058GRO
ENCODE; ENCBS068RRP
ENCODE; ENCBS083XJQ
ENCODE; ENCBS089RNA
ENCODE; ENCBS090RNA
ENCODE; ENCBS095RNA
ENCODE; ENCBS096RNA
ENCODE; ENCBS110ENC
ENCODE; ENCBS112GEV
ENCODE; ENCBS135VMF
ENCODE; ENCBS158BMT
ENCODE; ENCBS158FOT
ENCODE; ENCBS162RYJ
ENCODE; ENCBS165XVU
ENCODE; ENCBS166BUX
ENCODE; ENCBS175OMJ
ENCODE; ENCBS176TMN
ENCODE; ENCBS195IGI
ENCODE; ENCBS195XMM
ENCODE; ENCBS217CXJ
ENCODE; ENCBS232JAP
ENCODE; ENCBS236ZAD
ENCODE; ENCBS237JOI
ENCODE; ENCBS241TQO
ENCODE; ENCBS256VGP
ENCODE; ENCBS260WJQ
ENCODE; ENCBS276RPG
ENCODE; ENCBS280SII
ENCODE; ENCBS332CFX
ENCODE; ENCBS337LQM
ENCODE; ENCBS338MMX
ENCODE; ENCBS339VHO
ENCODE; ENCBS348KQK
ENCODE; ENCBS350HSZ
ENCODE; ENCBS356XKT
ENCODE; ENCBS360VGQ
ENCODE; ENCBS361VFY
ENCODE; ENCBS381VEV
ENCODE; ENCBS383ZNJ
ENCODE; ENCBS389LEA
ENCODE; ENCBS411YBT
ENCODE; ENCBS421UOG
ENCODE; ENCBS443JGY
ENCODE; ENCBS446GJK
ENCODE; ENCBS446LSH
ENCODE; ENCBS460NBS
ENCODE; ENCBS487GLA
ENCODE; ENCBS488GLI
ENCODE; ENCBS492CVI
ENCODE; ENCBS494ENC
ENCODE; ENCBS495ENC
ENCODE; ENCBS495SKR
ENCODE; ENCBS496ENC
ENCODE; ENCBS506MRD
ENCODE; ENCBS543LGX
ENCODE; ENCBS571ZAL
ENCODE; ENCBS579VBW
ENCODE; ENCBS588GPN
ENCODE; ENCBS594YOH
ENCODE; ENCBS595CWJ
ENCODE; ENCBS608PGT
ENCODE; ENCBS621MYU
ENCODE; ENCBS630AAA
ENCODE; ENCBS631AAA
ENCODE; ENCBS632AAA
ENCODE; ENCBS638AZC
ENCODE; ENCBS644QQI
ENCODE; ENCBS657FSS
ENCODE; ENCBS664ZGZ
ENCODE; ENCBS676TGQ
ENCODE; ENCBS685XZU
ENCODE; ENCBS692APS
ENCODE; ENCBS705AAA
ENCODE; ENCBS706AAA
ENCODE; ENCBS707AAA
ENCODE; ENCBS708AAA
ENCODE; ENCBS709AAA
ENCODE; ENCBS710AAA
ENCODE; ENCBS715VCP
ENCODE; ENCBS727AAA
ENCODE; ENCBS728AAA
ENCODE; ENCBS729AAA
ENCODE; ENCBS730AAA
ENCODE; ENCBS734TTU
ENCODE; ENCBS755AAA
ENCODE; ENCBS756AAA
ENCODE; ENCBS757AAA
ENCODE; ENCBS758AAA
ENCODE; ENCBS759AAA
ENCODE; ENCBS760AAA
ENCODE; ENCBS761AAA
ENCODE; ENCBS762AAA
ENCODE; ENCBS763AAA
ENCODE; ENCBS778MKB
ENCODE; ENCBS791FEH
ENCODE; ENCBS792AAA
ENCODE; ENCBS793AAA
ENCODE; ENCBS794AAA
ENCODE; ENCBS795AAA
ENCODE; ENCBS796AAA
ENCODE; ENCBS798AAA
ENCODE; ENCBS799AAA
ENCODE; ENCBS800AAA
ENCODE; ENCBS801AAA
ENCODE; ENCBS801TVI
ENCODE; ENCBS802BKO
ENCODE; ENCBS802GDX
ENCODE; ENCBS813RJD
ENCODE; ENCBS817AAA
ENCODE; ENCBS818AAA
ENCODE; ENCBS819AAA
ENCODE; ENCBS830CIQ
ENCODE; ENCBS831YAX
ENCODE; ENCBS837QOG
ENCODE; ENCBS839NNF
ENCODE; ENCBS845AAA
ENCODE; ENCBS845TXY
ENCODE; ENCBS846AAA
ENCODE; ENCBS849IVF
ENCODE; ENCBS853AAA
ENCODE; ENCBS857VGC
ENCODE; ENCBS859QLM
ENCODE; ENCBS866OKF
ENCODE; ENCBS878MAF
ENCODE; ENCBS879WMA
ENCODE; ENCBS882WSF
ENCODE; ENCBS890IXM
ENCODE; ENCBS901DKW
ENCODE; ENCBS907LID
ENCODE; ENCBS913AHD
ENCODE; ENCBS913NDQ
ENCODE; ENCBS917LTR
ENCODE; ENCBS934CYZ
ENCODE; ENCBS937MAM
ENCODE; ENCBS950FXN
ENCODE; ENCBS965YSG
ENCODE; ENCBS976FSZ
ENCODE; ENCBS978YID
IGSR; NA12878
Gene expression databases GEO; GSM112568
GEO; GSM112871
GEO; GSM188847
GEO; GSM291698
GEO; GSM421093
GEO; GSM472901
GEO; GSM472902
GEO; GSM472931
GEO; GSM489277
GEO; GSM489278
GEO; GSM489279
GEO; GSM489290
GEO; GSM489291
GEO; GSM489292
GEO; GSM651106
GEO; GSM651107
GEO; GSM660003
GEO; GSM660210
GEO; GSM660416
GEO; GSM733642
GEO; GSM733664
GEO; GSM733677
GEO; GSM733679
GEO; GSM733708
GEO; GSM733736
GEO; GSM733752
GEO; GSM733758
GEO; GSM733767
GEO; GSM733769
GEO; GSM733771
GEO; GSM733772
GEO; GSM736496
GEO; GSM736620
GEO; GSM749704
GEO; GSM749706
GEO; GSM803338
GEO; GSM803341
GEO; GSM803342
GEO; GSM803347
GEO; GSM803349
GEO; GSM803350
GEO; GSM803355
GEO; GSM803356
GEO; GSM803362
GEO; GSM803363
GEO; GSM803386
GEO; GSM803387
GEO; GSM803388
GEO; GSM803389
GEO; GSM803390
GEO; GSM803391
GEO; GSM803392
GEO; GSM803406
GEO; GSM803411
GEO; GSM803416
GEO; GSM803420
GEO; GSM803434
GEO; GSM803477
GEO; GSM803485
GEO; GSM803496
GEO; GSM803508
GEO; GSM803509
GEO; GSM803510
GEO; GSM803511
GEO; GSM803531
GEO; GSM803532
GEO; GSM803534
GEO; GSM803537
GEO; GSM803538
GEO; GSM816665
GEO; GSM822270
GEO; GSM822290
GEO; GSM822312
GEO; GSM923451
GEO; GSM935277
GEO; GSM935283
GEO; GSM935294
GEO; GSM935301
GEO; GSM935309
GEO; GSM935316
GEO; GSM935330
GEO; GSM935331
GEO; GSM935332
GEO; GSM935345
GEO; GSM935349
GEO; GSM935375
GEO; GSM935376
GEO; GSM935377
GEO; GSM935378
GEO; GSM935386
GEO; GSM935409
GEO; GSM935412
GEO; GSM935415
GEO; GSM935417
GEO; GSM935430
GEO; GSM935431
GEO; GSM935442
GEO; GSM935480
GEO; GSM935482
GEO; GSM935483
GEO; GSM935492
GEO; GSM935506
GEO; GSM935507
GEO; GSM935518
GEO; GSM935541
GEO; GSM935556
GEO; GSM935557
GEO; GSM935558
GEO; GSM935559
GEO; GSM935562
GEO; GSM935583
GEO; GSM935608
GEO; GSM935611
GEO; GSM935612
GEO; GSM935613
GEO; GSM935651
GEO; GSM935652
GEO; GSM935653
GEO; GSM945188
GEO; GSM945196
GEO; GSM945212
GEO; GSM945259
GEO; GSM957355
GEO; GSM1003498
GEO; GSM1003602
GEO; GSM1003603
GEO; GSM1003604
GEO; GSM1003605
GEO; GSM1003616
GEO; GSM1003617
GEO; GSM1003634
GEO; GSM1010721
GEO; GSM1010729
GEO; GSM1010730
GEO; GSM1010731
GEO; GSM1010744
GEO; GSM1010745
GEO; GSM1010760
GEO; GSM1010771
GEO; GSM1010779
GEO; GSM1010780
GEO; GSM1010850
GEO; GSM1010881
GEO; GSM1010893
GEO; GSM1719835
GEO; GSM2071261
GEO; GSM2071262
GEO; GSM2071297
GEO; GSM2071298
GEO; GSM2071299
GEO; GSM2071300
GEO; GSM2071301
GEO; GSM2071302
GEO; GSM2071303
GEO; GSM2071344
GEO; GSM2071564
Other Wikidata; Q54846175