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   Info; CEPH; -; 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; 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: Genomics; Whole genome sequencing.
CC   Omics: Transcriptomics; Microarray.
CC   Omics: Transcriptomics; RNAseq.
CC   Omics: Variations; CNV analysis.
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: 10-04-25; Version: 31
//
RX   PubMed=19797678; DOI=10.1101/gr.097600.109; PMCID=PMC2775589;
RA   Nayak, Renuka R.
RA   Kearns, Michael Justin
RA   Spielman, Richard Saul
RA   Cheung, Vivian 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, Beth A.
RA   Nayak, Renuka R.
RA   Ewens, Kathryn G.
RA   Ankener, Wendy
RA   Cheung, Vivian G.
RA   Spielman, Richard Saul
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=21397061; DOI=10.1016/j.ajhg.2011.02.004; PMCID=PMC3059424;
RA   Campbell, Catarina D.
RA   Sampas, Nick
RA   Tsalenko, Anya
RA   Sudmant, Peter H.
RA   Kidd, Jeffrey M.
RA   Malig, Maika
RA   Vu, Tiffany H.
RA   Vives, Laura
RA   Tsang, Peter
RA   Bruhn, Laurakay
RA   Eichler, Evan 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, Victoria M.
RA   Everts, Robin E.
RA   Aggarwal, Praful
RA   Beyer, Brittany N.
RA   Broeckel, Ulrich
RA   Epstein-Baak, Ruth
RA   Hujsak, Paul
RA   Kornreich, Ruth
RA   Liao, Jun
RA   Lorier, Rachel
RA   Scott, Stuart A.
RA   Smith, Ching-Ying Huang
RA   Toji, Lorraine Hellenga
RA   Turner, Amy
RA   Kalman, Lisa 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).
//
RX   PubMed=20856902; DOI=10.1371/journal.pbio.1000480; PMCID=PMC2939022;
RA   Cheung, Vivian G.
RA   Nayak, Renuka R.
RA   Wang, Isabel Xiao-Rong
RA   Elwyn, Susannah
RA   Cousins, Sarah M.
RA   Morley, Michael
RA   Spielman, Richard Saul
RT   "Polymorphic cis- and trans-regulation of human gene expression.";
RL   PLoS Biol. 8:e1000480.1-e1000480.14(2010).
//
RX   PubMed=19043577; DOI=10.1371/journal.pgen.1000287; PMCID=PMC2583954;
RA   Choy, Edwin
RA   Yelensky, Roman
RA   Bonakdar, Sasha
RA   Plenge, Robert M.
RA   Saxena, Richa
RA   De Jager, Philip Lawrence
RA   Shaw, Stanley Y.
RA   Wolfish, Cara Susan
RA   Slavik, Jacqueline M.
RA   Cotsapas, Chris
RA   Rivas, Manuel A.
RA   Dermitzakis, Emmanouil Theophilos
RA   Cahir-McFarland, Ellen
RA   Kieff, Elliott Dan
RA   Hafler, David A.
RA   Daly, Mark Joseph
RA   Altshuler, David Matthew
RT   "Genetic analysis of human traits in vitro: drug response and gene
RT   expression in lymphoblastoid cell lines.";
RL   PLoS Genet. 4:e1000287.1-e1000287.16(2008).
//
RX   PubMed=17122850; DOI=10.1038/nature05329; PMCID=PMC2669898;
RA   Redon, Richard
RA   Ishikawa, Shumpei
RA   Fitch, Karen R.
RA   Feuk, Lars
RA   Perry, George H.
RA   Andrews, T. Daniel
RA   Fiegler, Heike
RA   Shapero, Michael H.
RA   Carson, Andrew R.
RA   Chen, Wen-Wei
RA   Cho, Eun Kyung
RA   Dallaire, Stephanie
RA   Freeman, Jennifer L.
RA   Gonzalez, Juan R.
RA   Gratacos, Monica
RA   Huang, Jing
RA   Kalaitzopoulos, Dimitrios
RA   Komura, Daisuke
RA   MacDonald, Jeffrey R.
RA   Marshall, Christian R.
RA   Mei, Rui
RA   Montgomery, Lyndal
RA   Nishimura, Kunihiro
RA   Okamura, Kohji
RA   Shen, Fan
RA   Somerville, Martin John
RA   Tchinda, Joelle
RA   Valsesia, Armand
RA   Woodwark, Cara
RA   Yang, Feng-Tang
RA   Zhang, Jun-Jun
RA   Zerjal, Tatiana
RA   Zhang, Jane
RA   Armengol, Lluis
RA   Conrad, Donald F.
RA   Estivill, Xavier
RA   Tyler-Smith, Chris
RA   Carter, Nigel P.
RA   Aburatani, Hiroyuki
RA   Lee, Charles
RA   Jones, Keith W.
RA   Scherer, Stephen Wayne
RA   Hurles, Matthew Edward
RT   "Global variation in copy number in the human genome.";
RL   Nature 444:444-454(2006).
//