ID   GM12891
AC   CVCL_9630
DR   CLO; CLO_0022859
DR   EFO; EFO_0002785
DR   BioSample; SAMN00801912
DR   Coriell; GM12891
DR   ENCODE; ENCBS041WYJ
DR   ENCODE; ENCBS270GPL
DR   ENCODE; ENCBS377ENC
DR   ENCODE; ENCBS384ENC
DR   ENCODE; ENCBS388ENC
DR   ENCODE; ENCBS430ENC
DR   ENCODE; ENCBS507TOT
DR   ENCODE; ENCBS606OMD
DR   ENCODE; ENCBS653UMX
DR   GEO; GSM112569
DR   GEO; GSM112872
DR   GEO; GSM188848
DR   GEO; GSM273370
DR   GEO; GSM273371
DR   GEO; GSM291699
DR   GEO; GSM315038
DR   GEO; GSM421104
DR   GEO; GSM424360
DR   GEO; GSM486855
DR   GEO; GSM486856
DR   GEO; GSM489280
DR   GEO; GSM489281
DR   GEO; GSM489293
DR   GEO; GSM489294
DR   GEO; GSM649300
DR   GEO; GSM649855
DR   GEO; GSM659960
DR   GEO; GSM660162
DR   GEO; GSM660369
DR   GEO; GSM816656
DR   GEO; GSM905905
DR   GEO; GSM906000
DR   GEO; GSM906095
DR   GEO; GSM957396
DR   IGSR; NA12891
DR   Wikidata; Q54846191
RX   PubMed=17122850;
RX   PubMed=19043577;
RX   PubMed=19797678;
RX   PubMed=20398888;
RX   PubMed=20856902;
RX   PubMed=21397061;
RX   PubMed=23325432;
RX   PubMed=23676674;
RX   PubMed=27792722;
WW   http://genome.ucsc.edu/ENCODE/protocols/cell/human/GM12891_Crawford_protocol.pdf
WW   http://www.completegenomics.com/documents/PublicGenomes.pdf
WW   https://www.cephb.fr/en/familles_CEPH.php
CC   Part of: CEPH/Utah pedigree cell line collection.
CC   Part of: ENCODE project common cell types; tier 3.
CC   Part of: International Genome Sample Resource (1000 genomes project) cell lines.
CC   Registration: CEPH Families Reference Panel; 146315.
CC   Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
CC   HLA typing: A*01,24; B*07,08; C*07,07; DPA1*01:03:01,01:03:01; DPB1*03,04:01:01; DQA1*01,05; DQB1*02,06; DRB1*03:01,15:01 (PubMed=27792722).
CC   Sequence variation: Mutation; HGNC; 2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Homozygous; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM12891).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CNV analysis.
CC   Omics: Deep proteome analysis.
CC   Omics: DNA methylation analysis.
CC   Omics: Genome sequenced.
CC   Omics: Transcriptome analysis by microarray.
CC   Omics: Transcriptome analysis by RNAseq.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 06-06-12; Last updated: 30-01-24; Version: 28
//
RX   PubMed=17122850; DOI=10.1038/nature05329;
RA   Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D.,
RA   Fiegler H., Shapero M.H., Carson A.R., Chen W.-W., Cho E.K., Dallaire S.,
RA   Freeman J.L., Gonzalez J.R., Gratacos M., Huang J., Kalaitzopoulos D.,
RA   Komura D., MacDonald J.R., Marshall C.R., Mei R., Montgomery L.,
RA   Nishimura K., Okamura K., Shen F., Somerville M.J., Tchinda J.,
RA   Valsesia A., Woodwark C., Yang F.-T., Zhang J.-J., Zerjal T., Zhang J.,
RA   Armengol L., Conrad D.F., Estivill X., Tyler-Smith C., Carter N.P.,
RA   Aburatani H., Lee C., Jones K.W., Scherer S.W., Hurles M.E.;
RT   "Global variation in copy number in the human genome.";
RL   Nature 444:444-454(2006).
//
RX   PubMed=19043577; DOI=10.1371/journal.pgen.1000287;
RA   Choy E., Yelensky R., Bonakdar S., Plenge R.M., Saxena R.,
RA   De Jager P.L., Shaw S.Y., Wolfish C.S., Slavik J.M., Cotsapas C.,
RA   Rivas M.A., Dermitzakis E.T., Cahir-McFarland E., Kieff E.D.,
RA   Hafler D.A., Daly M.J., Altshuler D.M.;
RT   "Genetic analysis of human traits in vitro: drug response and gene
RT   expression in lymphoblastoid cell lines.";
RL   PLoS Genet. 4:E1000287-E1000287(2008).
//
RX   PubMed=19797678; DOI=10.1101/gr.097600.109;
RA   Nayak R.R., Kearns M., Spielman R.S., Cheung V.G.;
RT   "Coexpression network based on natural variation in human gene
RT   expression reveals gene interactions and functions.";
RL   Genome Res. 19:1953-1962(2009).
//
RX   PubMed=20398888; DOI=10.1016/j.ajhg.2010.03.017;
RA   Dombroski B.A., Nayak R.R., Ewens K.G., Ankener W., Cheung V.G.,
RA   Spielman R.S.;
RT   "Gene expression and genetic variation in response to endoplasmic
RT   reticulum stress in human cells.";
RL   Am. J. Hum. Genet. 86:719-729(2010).
//
RX   PubMed=20856902; DOI=10.1371/journal.pbio.1000480;
RA   Cheung V.G., Nayak R.R., Wang I.X.-R., Elwyn S., Cousins S.M., Morley M.,
RA   Spielman R.S.;
RT   "Polymorphic cis- and trans-regulation of human gene expression.";
RL   PLoS Biol. 8:e1000480.1-e1000480.14(2010).
//
RX   PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004;
RA   Campbell C.D., Sampas N., Tsalenko A., Sudmant P.H., Kidd J.M.,
RA   Malig M., Vu T.H., Vives L., Tsang P., Bruhn L., Eichler E.E.;
RT   "Population-genetic properties of differentiated human copy-number
RT   polymorphisms.";
RL   Am. J. Hum. Genet. 88:317-332(2011).
//
RX   PubMed=23325432; DOI=10.1101/gr.147942.112;
RA   Varley K.E., Gertz J., Bowling K.M., Parker S.L., Reddy T.E.,
RA   Pauli-Behn F., Cross M.K., Williams B.A., Stamatoyannopoulos J.A.,
RA   Crawford G.E., Absher D.M., Wold B.J., Myers R.M.;
RT   "Dynamic DNA methylation across diverse human cell lines and
RT   tissues.";
RL   Genome Res. 23:555-567(2013).
//
RX   PubMed=23676674; DOI=10.1038/nature12223;
RA   Wu L.-F., Candille S.I., Choi Y., Xie D., Jiang L.-H., Li-Pook-Than J.,
RA   Tang H., Snyder M.P.;
RT   "Variation and genetic control of protein abundance in humans.";
RL   Nature 499:79-82(2013).
//
RX   PubMed=27792722; DOI=10.1371/journal.pcbi.1005151;
RA   Dilthey A.T., Gourraud P.-A., Mentzer A.J., Cereb N., Iqbal Z.,
RA   McVean G.A.T.;
RT   "High-accuracy HLA type inference from whole-genome sequencing data
RT   using population reference graphs.";
RL   PLoS Comput. Biol. 12:e1005151.1-e1005151.16(2016).
//