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Cellosaurus GM12891 (CVCL_9630)

Cell line name GM12891
Accession CVCL_9630
Resource Identification Initiative To cite this cell line use: GM12891 (RRID:CVCL_9630)
Comments Part of: CEPH/Utah pedigree cell line collection.
Part of: ENCODE project common cell types; tier 3.
Part of: International Genome Sample Resource (1000 genomes project) cell lines.
Registration: CEPH Families Reference Panel; 146315.
Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: CNV analysis.
Omics: Deep proteome analysis.
Omics: DNA methylation analysis.
Omics: Genome sequenced.
Omics: Transcriptome analysis by microarray.
Omics: Transcriptome analysis by RNAseq.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Homozygous; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM12891).
HLA typing Source: PubMed=27792722
Class I
Class II
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Transformed cell line
Web pages http://genome.ucsc.edu/ENCODE/protocols/cell/human/GM12891_Crawford_protocol.pdf

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.-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.-T., Zhang J.-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.A., Dermitzakis E.T., Cahir-McFarland E., Kieff E.D., Hafler D.A., Daly M.J., Altshuler D.M.
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.
PLoS Genet. 4:E1000287-E1000287(2008)

PubMed=19797678; DOI=10.1101/gr.097600.109
Nayak R.R., Kearns M., Spielman R.S., Cheung V.G.
Coexpression network based on natural variation in human gene expression reveals gene interactions and functions.
Genome Res. 19:1953-1962(2009)

PubMed=20398888; DOI=10.1016/j.ajhg.2010.03.017
Dombroski B.A., Nayak R.R., Ewens K.G., Ankener W., Cheung V.G., Spielman R.S.
Gene expression and genetic variation in response to endoplasmic reticulum stress in human cells.
Am. J. Hum. Genet. 86:719-729(2010)

PubMed=20856902; DOI=10.1371/journal.pbio.1000480
Cheung V.G., Nayak R.R., Wang I.X.-R., Elwyn S., Cousins S.M., Morley M., Spielman R.S.
Polymorphic cis- and trans-regulation of human gene expression.
PLoS Biol. 8:e1000480.1-e1000480.14(2010)

PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004
Campbell C.D., Sampas N., Tsalenko A., Sudmant P.H., Kidd J.M., Malig M., Vu T.H., Vives L., Tsang P., Bruhn L., Eichler E.E.
Population-genetic properties of differentiated human copy-number polymorphisms.
Am. J. Hum. Genet. 88:317-332(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.-F., Candille S.I., Choi Y., Xie D., Jiang L.-H., Li-Pook-Than J., Tang H., Snyder M.P.
Variation and genetic control of protein abundance in humans.
Nature 499:79-82(2013)

PubMed=27792722; DOI=10.1371/journal.pcbi.1005151
Dilthey A.T., Gourraud P.-A., Mentzer A.J., Cereb N., Iqbal Z., McVean G.A.T.
High-accuracy HLA type inference from whole-genome sequencing data using population reference graphs.
PLoS Comput. Biol. 12:e1005151.1-e1005151.16(2016)

Cell line collections (Providers) Coriell; GM12891
Cell line databases/resources CLO; CLO_0022859
Biological sample resources BioSample; SAMN00801912
IGSR; NA12891
Encyclopedic resources Wikidata; Q54846191
Experimental variables resources EFO; EFO_0002785
Gene expression databases GEO; GSM112569
GEO; GSM112872
GEO; GSM188848
GEO; GSM273370
GEO; GSM273371
GEO; GSM291699
GEO; GSM315038
GEO; GSM421104
GEO; GSM424360
GEO; GSM486855
GEO; GSM486856
GEO; GSM489280
GEO; GSM489281
GEO; GSM489293
GEO; GSM489294
GEO; GSM649300
GEO; GSM649855
GEO; GSM659960
GEO; GSM660162
GEO; GSM660369
GEO; GSM816656
GEO; GSM905905
GEO; GSM906000
GEO; GSM906095
GEO; GSM957396
Entry history
Entry creation06-Jun-2012
Last entry update30-Jan-2024
Version number28