ID   GM00946
AC   CVCL_7308
SY   GM-946; GM00946B; GM17210
DR   CLO; CLO_0013891
DR   CLO; CLO_0029523
DR   Coriell; GM00946
DR   Coriell; GM17210
DR   GEO; GSM569510
DR   GEO; GSM596274
DR   GEO; GSM596635
DR   GEO; GSM924812
DR   Wikidata; Q54836554
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=14583597;
RX   PubMed=16260726;
RX   PubMed=20889555;
RX   PubMed=29959025;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Part of: Human variation panel.
CC   Population: Caucasian.
CC   HLA typing: A*26:01:01,66:01:01; B*38:01:01,38:01:01; C*12:03:01,12:03:01; DPA1*01:03:01,01:03:01; DPB1*04:01:01,04:01:01; DQA1*03:01:01,05:05:01; DQB1*03:01:01,03:02:01; DRB1*04:02:01,11:01:01; DRB3*02:02:01; DRB4*01:03:01 (PubMed=29959025).
CC   Sequence variation: Mutation; HGNC; HGNC:2623; CYP2C9; Simple; p.Arg144Cys (c.430C>T) (416C>T); ClinVar=VCV000008409; Zygosity=Heterozygous; Note=CYP2C9*2 allele (Coriell=GM17210).
CC   Sequence variation: 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).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Genomics; DNA methylation analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   22Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 10-04-25; Version: 26
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=14583597; DOI=10.1152/physiolgenomics.00163.2003;
RA   Pastinen T., Sladek R., Gurd S., Sammak A., Ge B., Lepage P.,
RA   Lavergne K., Villeneuve A., Gaudin T., Brandstrom H., Beck A.,
RA   Verner A., Kingsley J., Harmsen E., Labuda D., Morgan K., Vohl M.-C.,
RA   Naumova A.K., Sinnett D., Hudson T.J.;
RT   "A survey of genetic and epigenetic variation affecting human gene
RT   expression.";
RL   Physiol. Genomics 16:184-193(2004).
//
RX   PubMed=16260726; DOI=10.1073/pnas.0508390102; PMCID=PMC1283473;
RA   Harris S.L., Gil G., Robins H., Hu W.-W., Hirshfield K.M., Bond E.,
RA   Bond G., Levine A.J.;
RT   "Detection of functional single-nucleotide polymorphisms that affect
RT   apoptosis.";
RL   Proc. Natl. Acad. Sci. U.S.A. 102:16297-16302(2005).
//
RX   PubMed=20889555; DOI=10.2353/jmoldx.2010.100090; PMCID=PMC2962854;
RA   Pratt V.M., Zehnbauer B.A., Wilson J.A., Epstein-Baak R., Babic N.,
RA   Bettinotti M.P., Buller-Burckle A.M., Butz K.G., Campbell M.,
RA   Civalier C., El-Badry A., Farkas D.H., Lyon E., Mandal S., McKinney J.,
RA   Muralidharan K., Noll L., Sander T., Shabbeer J., Smith C.-Y.H.,
RA   Telatar M., Toji L.H., Vairavan A., Vance C., Weck K.E., Wu A.H.B.,
RA   Yeo K.-T.J., Zeller M., Kalman L.V.;
RT   "Characterization of 107 genomic DNA reference materials for CYP2D6,
RT   CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for
RT   Molecular Pathology collaborative project.";
RL   J. Mol. Diagn. 12:835-846(2010).
//
RX   PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009; PMCID=PMC6939753;
RA   Bettinotti M.P., Ferriola D., Duke J.L., Mosbruger T.L., Tairis N.,
RA   Jennings L., Kalman L.V., Monos D.S.;
RT   "Characterization of 108 genomic DNA reference materials for 11 human
RT   leukocyte antigen loci: a GeT-RM collaborative project.";
RL   J. Mol. Diagn. 20:703-715(2018).
//