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Cellosaurus GM12248 (CVCL_9613)

[Text version]
Cell line name GM12248
Synonyms CEPH-1416-NA12248; 1416-1186
Accession CVCL_9613
Secondary accession CVCL_G542
Resource Identification Initiative To cite this cell line use: GM12248 (RRID:CVCL_9613)
Comments Part of: CEPH/Utah pedigree cell line collection.
Part of: International Genome Sample Resource (1000 genomes project) cell lines.
Part of: International Histocompatibility Workshop cell lines.
Registration: CEPH Families Reference Panel; 141611.
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.
Cell type: B-cell; CL=CL_0000236.
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=GM12248).
HLA typing Source: IPD-IMGT/HLA=13827
Class I
HLA-AA*23:01,23:01
HLA-BB*41:01,51:01
HLA-CC*15:02,17:01
Class II
HLA-DPDPA1*01:03,01:03
DPB1*02:01:02,04:01
HLA-DQDQA1*01:02,02:01
DQB1*02:01,06:02
HLA-DRDRB1*07:01,15:01
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Adult
Category Transformed cell line
Web pages 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; GM12248
Cell line databases/resources CLO; CLO_0019220
dbMHC; 48713
IHW; IHW01173
IPD-IMGT/HLA; 13827
Biological sample resources IGSR; NA12248
Encyclopedic resources Wikidata; Q54845632
Experimental variables resources EFO; EFO_0001145
Gene expression databases GEO; GSM25578
GEO; GSM25579
GEO; GSM112539
GEO; GSM112844
GEO; GSM188818
GEO; GSM273335
GEO; GSM273336
GEO; GSM291665
GEO; GSM314934
GEO; GSM314935
GEO; GSM420831
GEO; GSM420832
GEO; GSM486813
GEO; GSM486814
GEO; GSM648909
GEO; GSM659949
GEO; GSM660170
GEO; GSM660359
GEO; GSM905875
GEO; GSM905970
GEO; GSM906065
Entry history
Entry creation06-Jun-2012
Last entry update30-Jan-2024
Version number29