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Cellosaurus GM12264 (CVCL_R631)

[Text version]
Cell line name GM12264
Accession CVCL_R631
Resource Identification Initiative To cite this cell line use: GM12264 (RRID:CVCL_R631)
Comments Part of: CEPH/Utah pedigree cell line collection.
Part of: International Genome Sample Resource (1000 genomes project) cell lines.
Registration: CEPH Families Reference Panel; 137511.
Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Genomics; Whole genome sequencing.
Omics: Transcriptomics; Microarray.
Omics: Transcriptomics; RNAseq.
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=GM12264).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Transformed cell line
Web pages Info; CEPH; -; https://www.cephb.fr/en/familles_CEPH.php
Publications

PubMed=15514893; DOI=10.1086/426461; PMCID=PMC1182144
Stephanie Ann Santorico, Amy S. Leonardson, Hao-Yuan Zhu, Paige E. Cundiff, Przemyslaw Pietrusiak, Steve Edwards, John W. Phillips, Alan B. Sachs, Eric Emil Schadt;
Genetic inheritance of gene expression in human cell lines.
Am. J. Hum. Genet. 75:1094-1105(2004)

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=19797678; DOI=10.1101/gr.097600.109; PMCID=PMC2775589
Renuka R. Nayak, Michael Justin Kearns, Richard Saul Spielman, Vivian G. Cheung;
Coexpression network based on natural variation in human gene expression reveals gene interactions and functions.
Genome Res. 19:1953-1962(2009)

PubMed=20398888; DOI=10.1016/j.ajhg.2010.03.017; PMCID=PMC2869002
Beth A. Dombroski, Renuka R. Nayak, Kathryn G. Ewens, Wendy Ankener, Vivian G. Cheung, Richard Saul Spielman;
Gene expression and genetic variation in response to endoplasmic reticulum stress in human cells.
Am. J. Hum. Genet. 86:719-729(2010)

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)

PubMed=21321133; DOI=10.1534/genetics.110.126177; PMCID=PMC3070530
Carolyn E. Cain, Ran Blekhman, John Carlo Marioni, Yoav Gilad;
Gene expression differences among primates are associated with changes in a histone epigenetic modification.
Genetics 187:1225-1234(2011)

PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004; PMCID=PMC3059424
Catarina D. Campbell, Nick Sampas, Anya Tsalenko, Peter H. Sudmant, Jeffrey M. Kidd, Maika Malig, Tiffany H. Vu, Laura Vives, Peter Tsang, Laurakay Bruhn, Evan E. Eichler;
Population-genetic properties of differentiated human copy-number polymorphisms.
Am. J. Hum. Genet. 88:317-332(2011)

Cross-references
Cell line collections (Providers) Coriell; GM12264
Cell line databases/resources CLO; CLO_0019004
Biological sample resources IGSR; NA12264
Encyclopedic resources Wikidata; Q54845643
Gene expression databases GEO; GSM30103
GEO; GSM112543
GEO; GSM112846
GEO; GSM188821
GEO; GSM273339
GEO; GSM291668
GEO; GSM291669
GEO; GSM314942
GEO; GSM420842
GEO; GSM424350
GEO; GSM486817
GEO; GSM486818
GEO; GSM648905
GEO; GSM957386
Entry history
Entry creation05-Nov-2013
Last entry update10-Apr-2025
Version number26