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Cellosaurus GM12865 (CVCL_L257)

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Cell line name GM12865
Accession CVCL_L257
Resource Identification Initiative To cite this cell line use: GM12865 (RRID:CVCL_L257)
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; 145902.
Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Genomics; ChIP-seq; CTCF.
Omics: Genomics; ChIP-seq; H3K4me3.
Omics: Genomics; Whole genome sequencing.
Omics: Transcriptomics; Microarray.
Omics: Variations; CNV analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Unspecified; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM12865).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Transformed cell line
Web pages Info; CEPH; -; https://www.cephb.fr/en/familles_CEPH.php
Info; ENCODE; -; http://genome.ucsc.edu/ENCODE/protocols/cell/human/GM12865_Stam_protocol.pdf
Publications

PubMed=16809669; DOI=10.1101/gr.5320706; PMCID=PMC1524869
Vivian G. Cheung, Warren John Ewens;
Heterozygous carriers of Nijmegen breakage syndrome have a distinct gene expression phenotype.
Genome Res. 16:973-979(2006)

PubMed=17122850; DOI=10.1038/nature05329; PMCID=PMC2669898
Richard Redon, Shumpei Ishikawa, Karen R. Fitch, Lars Feuk, George H. Perry, T. Daniel Andrews, Heike Fiegler, Michael H. Shapero, Andrew R. Carson, Wen-Wei Chen, Eun Kyung Cho ...Show all 43 authors... , Stephanie Dallaire, Jennifer L. Freeman, Juan R. Gonzalez, Monica Gratacos, Jing Huang, Dimitrios Kalaitzopoulos, Daisuke Komura, Jeffrey R. MacDonald, Christian R. Marshall, Rui Mei, Lyndal Montgomery, Kunihiro Nishimura, Kohji Okamura, Fan Shen, Martin John Somerville, Joelle Tchinda, Armand Valsesia, Cara Woodwark, Feng-Tang Yang, Jun-Jun Zhang, Tatiana Zerjal, Jane Zhang, Lluis Armengol, Donald F. Conrad, Xavier Estivill, Chris Tyler-Smith, Nigel P. Carter, Hiroyuki Aburatani, Charles Lee, Keith W. Jones, Stephen Wayne Scherer, Matthew Edward Hurles; Show fewer authors
Global variation in copy number in the human genome.
Nature 444:444-454(2006)

PubMed=19043577; DOI=10.1371/journal.pgen.1000287; PMCID=PMC2583954
Edwin Choy, Roman Yelensky, Sasha Bonakdar, Robert M. Plenge, Richa Saxena, Philip Lawrence De Jager, Stanley Y. Shaw, Cara Susan Wolfish, Jacqueline M. Slavik, Chris Cotsapas, Manuel A. Rivas ...Show all 17 authors... , Emmanouil Theophilos Dermitzakis, Ellen Cahir-McFarland, Elliott Dan Kieff, David A. Hafler, Mark Joseph Daly, David Matthew Altshuler; Show fewer authors
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.
PLoS Genet. 4:e1000287.1-e1000287.16(2008)

PubMed=20856902; DOI=10.1371/journal.pbio.1000480; PMCID=PMC2939022
Vivian G. Cheung, Renuka R. Nayak, Isabel Xiao-Rong Wang, Susannah Elwyn, Sarah M. Cousins, Michael Morley, Richard Saul Spielman;
Polymorphic cis- and trans-regulation of human gene expression.
PLoS Biol. 8:e1000480.1-e1000480.14(2010)

Cross-references
Cell line collections (Providers) Coriell; GM12865
Cell line databases/resources CLO; CLO_0022834
Biological sample resources ENCODE; ENCBS073XSW
ENCODE; ENCBS159QLB
ENCODE; ENCBS209AAA
ENCODE; ENCBS239KGS
ENCODE; ENCBS332CTQ
ENCODE; ENCBS356ARP
ENCODE; ENCBS710IXP
ENCODE; ENCBS885AEZ
IGSR; NA12865
Encyclopedic resources Wikidata; Q54846162
Experimental variables resources EFO; EFO_0005338
Gene expression databases GEO; GSM89115
GEO; GSM89116
GEO; GSM112563
GEO; GSM112866
GEO; GSM188842
GEO; GSM291692
GEO; GSM421077
GEO; GSM749725
GEO; GSM749740
GEO; GSM749777
GEO; GSM824874
GEO; GSM945234
GEO; GSM945295
GEO; GSM1022636
Entry history
Entry creation06-May-2013
Last entry update10-Apr-2025
Version number28