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Cellosaurus GM12753 (CVCL_R669)

[Text version]
Cell line name GM12753
Accession CVCL_R669
Resource Identification Initiative To cite this cell line use: GM12753 (RRID:CVCL_R669)
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; 144702.
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.
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=GM12753).
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=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)

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)

PubMed=24924344; DOI=10.1186/1756-0500-7-360; PMCID=PMC4068968
Gunjan D. Hariani, Ernest J. Lam, Tammy M. Havener, Pui-Yan Kwok, Howard L. McLeod, Michael J. Wagner, Alison Anne Motsinger-Reif;
Application of next generation sequencing to CEPH cell lines to discover variants associated with FDA approved chemotherapeutics.
BMC Res. Notes 7:360.1-360.10(2014)

PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005; PMCID=PMC4695224
Victoria M. Pratt, Robin E. Everts, Praful Aggarwal, Brittany N. Beyer, Ulrich Broeckel, Ruth Epstein-Baak, Paul Hujsak, Ruth Kornreich, Jun Liao, Rachel Lorier, Stuart A. Scott ...Show all 15 authors... , Ching-Ying Huang Smith, Lorraine H. Toji, Amy Turner, Lisa V. Kalman; Show fewer authors
Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: a GeT-RM collaborative project.
J. Mol. Diagn. 18:109-123(2016)

PubMed=35931342; DOI=10.1016/j.jmoldx.2022.06.008; PMCID=PMC9554816
Victoria M. Pratt, Wendy Y. Wang, Erin C. Boone, Ulrich Broeckel, Neal Cody, Lisa J. Edelmann, Andrea Gaedigk, Tyler C. Lynnes, Elizabeth Medeiros, Ann M. Moyer, Matthew M. Mitchell ...Show all 15 authors... , Stuart A. Scott, Petr Starostik, Amy Turner, Lisa V. Kalman; Show fewer authors
Characterization of reference materials for TPMT and NUDT15: a GeT-RM collaborative project.
J. Mol. Diagn. 24:1079-1088(2022)

Cross-references
Cell line collections (Providers) Coriell; GM12753
Cell line databases/resources CLO; CLO_0022587
Biological sample resources IGSR; NA12753
Encyclopedic resources Wikidata; Q54846018
Gene expression databases GEO; GSM112551
GEO; GSM112854
GEO; GSM188828
GEO; GSM291677
GEO; GSM291678
GEO; GSM316462
GEO; GSM316463
GEO; GSM316464
GEO; GSM420968
GEO; GSM420969
GEO; GSM648921
Entry history
Entry creation05-Nov-2013
Last entry update10-Apr-2025
Version number26