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Cellosaurus GM07348 (CVCL_7465)

[Text version]
Cell line name GM07348
Synonyms GM07348B
Accession CVCL_7465
Resource Identification Initiative To cite this cell line use: GM07348 (RRID:CVCL_7465)
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; 134502.
Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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; 2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Unspecified; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM07348).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 45Y
Category Transformed cell line
Web pages https://www.cephb.fr/en/familles_CEPH.php
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=15514893; DOI=10.1086/426461; PMCID=PMC1182144
Monks S.A., Leonardson A.S., Zhu H., Cundiff P.E., Pietrusiak P., Edwards S., Phillips J.W., Sachs A.B., Schadt E.E.
Genetic inheritance of gene expression in human cell lines.
Am. J. Hum. Genet. 75:1094-1105(2004)

PubMed=16809669; DOI=10.1101/gr.5320706; PMCID=PMC1524869
Cheung V.G., Ewens W.J.
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
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; PMCID=PMC2583954
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=20856902; DOI=10.1371/journal.pbio.1000480; PMCID=PMC2939022
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; PMCID=PMC3059424
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)

PubMed=24924344; DOI=10.1186/1756-0500-7-360; PMCID=PMC4068968
Hariani G.D., Lam E.J., Havener T.M., Kwok P.-Y., McLeod H.L., Wagner M.J., Motsinger-Reif A.A.
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
Pratt V.M., Everts R.E., Aggarwal P., Beyer B.N., Broeckel U., Epstein-Baak R., Hujsak P., Kornreich R., Liao J., Lorier R., Scott S.A., Smith C.-Y.H., Toji L.H., Turner A., Kalman L.V.
Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: a GeT-RM collaborative project.
J. Mol. Diagn. 18:109-123(2016)

Cross-references
Cell line collections (Providers) Coriell; GM07348
Cell line databases/resources CLO; CLO_0016951
Biological sample resources IGSR; NA07348
Encyclopedic resources Wikidata; Q54842678
Gene expression databases GEO; GSM25415
GEO; GSM25416
GEO; GSM30024
GEO; GSM112492
GEO; GSM112772
GEO; GSM188732
GEO; GSM207757
GEO; GSM291599
GEO; GSM291600
GEO; GSM420571
GEO; GSM420572
GEO; GSM648877
Entry history
Entry creation04-Apr-2012
Last entry update30-Jan-2024
Version number27