ID   GM11839
AC   CVCL_7509
AS   CVCL_G488
SY   CEPH-1349-NA11839; 1349-8411
DR   CLO; CLO_0020020
DR   EFO; EFO_0001121
DR   Coriell; GM11839
DR   dbMHC; 48648
DR   GEO; GSM112514
DR   GEO; GSM112819
DR   GEO; GSM188792
DR   GEO; GSM273295
DR   GEO; GSM291626
DR   GEO; GSM314864
DR   GEO; GSM420663
DR   GEO; GSM424333
DR   GEO; GSM486763
DR   GEO; GSM486764
DR   GEO; GSM648922
DR   GEO; GSM659825
DR   GEO; GSM659984
DR   GEO; GSM660180
DR   GEO; GSM905852
DR   GEO; GSM905947
DR   GEO; GSM906042
DR   GEO; GSM957369
DR   IGSR; NA11839
DR   IHW; IHW01119
DR   IPD-IMGT/HLA; 25916
DR   Wikidata; Q54845288
RX   PubMed=17122850;
RX   PubMed=19043577;
RX   PubMed=19797678;
RX   PubMed=20398888;
RX   PubMed=20856902;
RX   PubMed=21397061;
RX   PubMed=26621101;
WW   https://www.cephb.fr/en/familles_CEPH.php
CC   Part of: CEPH/Utah pedigree cell line collection.
CC   Part of: International Genome Sample Resource (1000 genomes project) cell lines.
CC   Part of: International Histocompatibility Workshop cell lines.
CC   Registration: CEPH Families Reference Panel; 134913.
CC   Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
CC   HLA typing: A*02:01,25:01; B*44:02:01:01,07:02; C*05:01,07:02; DPA1*01:03,01:03; DPB1*04:01,04:01; DQA1*01:02,03:01; DQB1*03:01,06:02; DRB1*04:01,15:01; DRB4*01; DRB5*01:01 (IPD-IMGT/HLA=25916).
CC   Sequence variation: Mutation; HGNC; 2623; CYP2C9; Simple; p.Ile359Leu (c.1075A>C); ClinVar=VCV000008408; Zygosity=Heterozygous; Note=CYP2C9*3 allele (Coriell=GM11839).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CNV 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.
CC   Cell type: B-cell; CL=CL_0000236.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Adult
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 29
//
RX   PubMed=17122850; DOI=10.1038/nature05329; PMCID=PMC2669898;
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; PMCID=PMC2583954;
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; PMCID=PMC2775589;
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; PMCID=PMC2869002;
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; PMCID=PMC2939022;
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; PMCID=PMC3059424;
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=26621101; DOI=10.1016/j.jmoldx.2015.08.005; PMCID=PMC4695224;
RA   Pratt V.M., Everts R.E., Aggarwal P., Beyer B.N., Broeckel U.,
RA   Epstein-Baak R., Hujsak P., Kornreich R., Liao J., Lorier R.,
RA   Scott S.A., Smith C.-Y.H., Toji L.H., Turner A., Kalman L.V.;
RT   "Characterization of 137 genomic DNA reference materials for 28
RT   pharmacogenetic genes: a GeT-RM collaborative project.";
RL   J. Mol. Diagn. 18:109-123(2016).
//