ID   GM12865
AC   CVCL_L257
DR   CLO; CLO_0022834
DR   EFO; EFO_0005338
DR   Coriell; GM12865
DR   ENCODE; ENCBS073XSW
DR   ENCODE; ENCBS159QLB
DR   ENCODE; ENCBS209AAA
DR   ENCODE; ENCBS239KGS
DR   ENCODE; ENCBS332CTQ
DR   ENCODE; ENCBS356ARP
DR   ENCODE; ENCBS710IXP
DR   ENCODE; ENCBS885AEZ
DR   GEO; GSM89115
DR   GEO; GSM89116
DR   GEO; GSM112563
DR   GEO; GSM112866
DR   GEO; GSM188842
DR   GEO; GSM291692
DR   GEO; GSM421077
DR   GEO; GSM749725
DR   GEO; GSM749740
DR   GEO; GSM749777
DR   GEO; GSM824874
DR   GEO; GSM945234
DR   GEO; GSM945295
DR   GEO; GSM1022636
DR   IGSR; NA12865
DR   Wikidata; Q54846162
RX   PubMed=16809669;
RX   PubMed=17122850;
RX   PubMed=19043577;
RX   PubMed=20856902;
WW   http://genome.ucsc.edu/ENCODE/protocols/cell/human/GM12865_Stam_protocol.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; 145902.
CC   Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
CC   Sequence variation: Mutation; HGNC; 2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Unspecified; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM12865).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CTCF ChIP-seq epigenome analysis.
CC   Omics: H3K4me3 ChIP-seq epigenome analysis.
CC   Omics: CNV analysis.
CC   Omics: Genome sequenced.
CC   Omics: Transcriptome analysis by microarray.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Transformed cell line
DT   Created: 06-05-13; Last updated: 30-01-24; Version: 26
//
RX   PubMed=16809669; DOI=10.1101/gr.5320706;
RA   Cheung V.G., Ewens W.J.;
RT   "Heterozygous carriers of Nijmegen breakage syndrome have a distinct
RT   gene expression phenotype.";
RL   Genome Res. 16:973-979(2006).
//
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=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).
//