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Cellosaurus GM12740 (CVCL_R665)

[Text version]
Cell line name GM12740
Accession CVCL_R665
Resource Identification Initiative To cite this cell line use: GM12740 (RRID:CVCL_R665)
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; 144402.
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: Proteomics.
Omics: Transcriptomics; Microarray.
Omics: Variations; CNV analysis.
Omics: Variations; SNP array 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=GM12740).
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
Publications

PubMed=14583597; DOI=10.1152/physiolgenomics.00163.2003
Tomi Pastinen, Robert Sladek, Scott Gurd, Alya'a Sammak, Bing Ge, Pierre Lepage, Karine Lavergne, Amelie Villeneuve, Tiffany Gaudin, Helena Brandstrom, Allon Beck ...Show all 20 authors... , Andrei Verner, Jade Kingsley, Eef Harmsen, Damian Labuda, Kenneth Morgan, Marie-Claude Vohl, Anna K. Naumova, Daniel Sinnett, Thomas James Hudson; Show fewer authors
A survey of genetic and epigenetic variation affecting human gene expression.
Physiol. Genomics 16:184-193(2004)

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=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=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)

PubMed=23676674; DOI=10.1038/nature12223; PMCID=PMC3789121
Lin-Feng Wu, Sophie I. Candille, Yoonha Choi, Dan Xie, Li-Hua Jiang, Jennifer Li-Pook-Than, Hua Tang, Michael P. Snyder;
Variation and genetic control of protein abundance in humans.
Nature 499:79-82(2013)

Cross-references
Cell line collections (Providers) Coriell; GM12740
Cell line databases/resources CLO; CLO_0022570
Biological sample resources IGSR; NA12740
Encyclopedic resources Wikidata; Q54846005
Gene expression databases GEO; GSM89109
GEO; GSM89110
GEO; GSM112547
GEO; GSM112850
GEO; GSM188824
GEO; GSM316459
GEO; GSM316460
GEO; GSM316461
GEO; GSM420950
GEO; GSM648900
GEO; GSM862014
GEO; GSM862015
GEO; GSM862016
GEO; GSM862017
GEO; GSM862018
GEO; GSM862019
Entry history
Entry creation05-Nov-2013
Last entry update10-Apr-2025
Version number26