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Cellosaurus GM12875 (CVCL_9629)

[Text version]
Cell line name GM12875
Accession CVCL_9629
Resource Identification Initiative To cite this cell line use: GM12875 (RRID:CVCL_9629)
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; 145811/145912.
Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: CTCF ChIP-seq epigenome analysis.
Omics: H3K4me3 ChIP-seq epigenome analysis.
Omics: CNV analysis.
Omics: Genome sequenced.
Omics: Transcriptome analysis by microarray.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2623; CYP2C9; Simple; p.Ile359Leu (c.1075A>C); ClinVar=VCV000008408; Zygosity=Heterozygous; Note=CYP2C9*3 allele (Coriell=GM12875).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_5E79 ! GM12841
Sex of cell Female
Age at sampling Adult
Category Transformed cell line
Web pages http://genome.ucsc.edu/ENCODE/protocols/cell/human/GM12875_Stam_protocol.pdf
https://www.cephb.fr/en/familles_CEPH.php
Publications

PubMed=17122850; DOI=10.1038/nature05329
Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., Fiegler H., Shapero M.H., Carson A.R., Chen W.-W., Cho E.K., Dallaire S., Freeman J.L., Gonzalez J.R., Gratacos M., Huang J., Kalaitzopoulos D., Komura D., MacDonald J.R., Marshall C.R., Mei R., Montgomery L., Nishimura K., Okamura K., Shen F., Somerville M.J., Tchinda J., Valsesia A., Woodwark C., Yang F.-T., Zhang J.-J., Zerjal T., Zhang J., Armengol L., Conrad D.F., Estivill X., Tyler-Smith C., Carter N.P., Aburatani H., Lee C., Jones K.W., Scherer S.W., Hurles M.E.
Global variation in copy number in the human genome.
Nature 444:444-454(2006)

PubMed=19043577; DOI=10.1371/journal.pgen.1000287
Choy E., Yelensky R., Bonakdar S., Plenge R.M., Saxena R., De Jager P.L., Shaw S.Y., Wolfish C.S., Slavik J.M., Cotsapas C., Rivas M.A., Dermitzakis E.T., Cahir-McFarland E., Kieff E.D., Hafler D.A., Daly M.J., Altshuler D.M.
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.
PLoS Genet. 4:E1000287-E1000287(2008)

PubMed=19797678; DOI=10.1101/gr.097600.109
Nayak R.R., Kearns M., Spielman R.S., Cheung V.G.
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
Dombroski B.A., Nayak R.R., Ewens K.G., Ankener W., Cheung V.G., Spielman R.S.
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
Cheung V.G., Nayak R.R., Wang I.X.-R., Elwyn S., Cousins S.M., Morley M., Spielman R.S.
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
Campbell C.D., Sampas N., Tsalenko A., Sudmant P.H., Kidd J.M., Malig M., Vu T.H., Vives L., Tsang P., Bruhn L., Eichler E.E.
Population-genetic properties of differentiated human copy-number polymorphisms.
Am. J. Hum. Genet. 88:317-332(2011)

Cross-references
Cell line collections (Providers) Coriell; GM12875
Cell line databases/resources CLO; CLO_0022837
Biological sample resources ENCODE; ENCBS219AAA
ENCODE; ENCBS364XYO
ENCODE; ENCBS525QYH
ENCODE; ENCBS823YEP
IGSR; NA12875
Encyclopedic resources Wikidata; Q54846172
Experimental variables resources EFO; EFO_0001162
Gene expression databases GEO; GSM25686
GEO; GSM25687
GEO; GSM112567
GEO; GSM112870
GEO; GSM188846
GEO; GSM273368
GEO; GSM273369
GEO; GSM291697
GEO; GSM315033
GEO; GSM315034
GEO; GSM421090
GEO; GSM421091
GEO; GSM486853
GEO; GSM486854
GEO; GSM648914
GEO; GSM659952
GEO; GSM660156
GEO; GSM660363
GEO; GSM749670
GEO; GSM749724
GEO; GSM749764
GEO; GSM945221
GEO; GSM945260
Entry history
Entry creation06-Jun-2012
Last entry update30-Jan-2024
Version number27