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Cellosaurus GM12891 (CVCL_9630)

[Text version]
Cell line name GM12891
Accession CVCL_9630
Resource Identification Initiative To cite this cell line use: GM12891 (RRID:CVCL_9630)
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; 146315.
Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Genomics; DNA methylation analysis.
Omics: Genomics; Whole genome sequencing.
Omics: Proteomics.
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=Homozygous; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM12891).
HLA typing Source: PubMed=27792722
Class I
HLA-AA*01,24
HLA-BB*07,08
HLA-CC*07,07
Class II
HLA-DPDPA1*01:03:01,01:03:01
DPB1*03,04:01:01
HLA-DQDQA1*01,05
DQB1*02,06
HLA-DRDRB1*03:01,15:01
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
Info; Complete Genomics; -; https://web.archive.org/web/20220626143727/http://www.completegenomics.com/documents/PublicGenomes.pdf
Info; ENCODE; -; http://genome.ucsc.edu/ENCODE/protocols/cell/human/GM12891_Crawford_protocol.pdf
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=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=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=23325432; DOI=10.1101/gr.147942.112; PMCID=PMC3589544
Katherine E. Varley, Jason Gertz, Kevin M. Bowling, Stephanie L. Parker, Timothy E. Reddy, Florencia Pauli-Behn, Marie K. Cross, Brian A. Williams, John A. Stamatoyannopoulos, Gregory E. Crawford, Devin Michael Absher ...Show all 13 authors... , Barbara Jane Wold, Richard M. Myers; Show fewer authors
Dynamic DNA methylation across diverse human cell lines and tissues.
Genome Res. 23:555-567(2013)

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=27792722; DOI=10.1371/journal.pcbi.1005151; PMCID=PMC5085092
Alexander T. Dilthey, Pierre-Antoine Gourraud, Alexander J. Mentzer, Nezih Cereb, Zamin Iqbal, Gilean Alistair Tristram McVean;
High-accuracy HLA type inference from whole-genome sequencing data using population reference graphs.
PLoS Comput. Biol. 12:e1005151.1-e1005151.16(2016)

Cross-references
Cell line collections (Providers) Coriell; GM12891
Cell line databases/resources CLO; CLO_0022859
Biological sample resources BioSample; SAMN00801912
ENCODE; ENCBS041WYJ
ENCODE; ENCBS270GPL
ENCODE; ENCBS377ENC
ENCODE; ENCBS384ENC
ENCODE; ENCBS388ENC
ENCODE; ENCBS430ENC
ENCODE; ENCBS507TOT
ENCODE; ENCBS606OMD
ENCODE; ENCBS653UMX
IGSR; NA12891
Encyclopedic resources Wikidata; Q54846191
Experimental variables resources EFO; EFO_0002785
Gene expression databases GEO; GSM112569
GEO; GSM112872
GEO; GSM188848
GEO; GSM273370
GEO; GSM273371
GEO; GSM291699
GEO; GSM315038
GEO; GSM421104
GEO; GSM424360
GEO; GSM486855
GEO; GSM486856
GEO; GSM489280
GEO; GSM489281
GEO; GSM489293
GEO; GSM489294
GEO; GSM649300
GEO; GSM649855
GEO; GSM659960
GEO; GSM660162
GEO; GSM660369
GEO; GSM816656
GEO; GSM905905
GEO; GSM906000
GEO; GSM906095
GEO; GSM957396
Entry history
Entry creation06-Jun-2012
Last entry update10-Apr-2025
Version number30