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Cellosaurus GM00946 (CVCL_7308)

[Text version]
Cell line name GM00946
Synonyms GM-946; GM00946B; GM17210
Accession CVCL_7308
Resource Identification Initiative To cite this cell line use: GM00946 (RRID:CVCL_7308)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Part of: Human variation panel.
Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: DNA methylation analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2623; CYP2C9; Simple; p.Arg144Cys (c.430C>T) (416C>T); ClinVar=VCV000008409; Zygosity=Heterozygous; Note=CYP2C9*2 allele (Coriell=GM17210).
  • Mutation; HGNC; HGNC:2625; CYP2D6; Simple; c.506-1G>A (IVSDS3,G-A,+1); ClinVar=VCV000016889; Zygosity=Heterozygous; Note=Splice acceptor mutation. CYP2D6*4 allele (Coriell=GM17210).
HLA typing Source: PubMed=29959025
Class I
HLA-AA*26:01:01,66:01:01
HLA-BB*38:01:01,38:01:01
HLA-CC*12:03:01,12:03:01
Class II
HLA-DPDPA1*01:03:01,01:03:01
DPB1*04:01:01,04:01:01
HLA-DQDQA1*03:01:01,05:05:01
DQB1*03:01:01,03:02:01
HLA-DRDRB1*04:02:01,11:01:01
DRB3*02:02:01
DRB4*01:03:01
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 22Y
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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=14583597; DOI=10.1152/physiolgenomics.00163.2003
Pastinen T., Sladek R., Gurd S., Sammak A., Ge B., Lepage P., Lavergne K., Villeneuve A., Gaudin T., Brandstrom H., Beck A., Verner A., Kingsley J., Harmsen E., Labuda D., Morgan K., Vohl M.-C., Naumova A.K., Sinnett D., Hudson T.J.
A survey of genetic and epigenetic variation affecting human gene expression.
Physiol. Genomics 16:184-193(2004)

PubMed=16260726; DOI=10.1073/pnas.0508390102; PMCID=PMC1283473
Harris S.L., Gil G., Robins H., Hu W.-W., Hirshfield K.M., Bond E., Bond G., Levine A.J.
Detection of functional single-nucleotide polymorphisms that affect apoptosis.
Proc. Natl. Acad. Sci. U.S.A. 102:16297-16302(2005)

PubMed=20889555; DOI=10.2353/jmoldx.2010.100090; PMCID=PMC2962854
Pratt V.M., Zehnbauer B.A., Wilson J.A., Epstein-Baak R., Babic N., Bettinotti M.P., Buller-Burckle A.M., Butz K.G., Campbell M., Civalier C., El-Badry A., Farkas D.H., Lyon E., Mandal S., McKinney J., Muralidharan K., Noll L., Sander T., Shabbeer J., Smith C.-Y.H., Telatar M., Toji L.H., Vairavan A., Vance C., Weck K.E., Wu A.H.B., Yeo K.-T.J., Zeller M., Kalman L.V.
Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.
J. Mol. Diagn. 12:835-846(2010)

PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009; PMCID=PMC6939753
Bettinotti M.P., Ferriola D., Duke J.L., Mosbruger T.L., Tairis N., Jennings L., Kalman L.V., Monos D.S.
Characterization of 108 genomic DNA reference materials for 11 human leukocyte antigen loci: a GeT-RM collaborative project.
J. Mol. Diagn. 20:703-715(2018)

Cross-references
Cell line collections (Providers) Coriell; GM00946
Coriell; GM17210
Cell line databases/resources CLO; CLO_0013891
CLO; CLO_0029523
Encyclopedic resources Wikidata; Q54836554
Gene expression databases GEO; GSM569510
GEO; GSM596274
GEO; GSM596635
GEO; GSM924812
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number25