ID   GM10959
AC   CVCL_N159
SY   GM17236
DR   CLO; CLO_0014336
DR   CLO; CLO_0023371
DR   BioSample; SAMN00800377
DR   Coriell; GM10959
DR   Coriell; GM17236
DR   GEO; GSM569563
DR   GEO; GSM596300
DR   GEO; GSM596660
DR   GEO; GSM924838
DR   Wikidata; Q54844762
RX   CelloPub=CLPUB00447;
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*02:01:01,03:01:01; B*07:02:01,07:02:01; C*07:02:01,07:02:01; DPA1*01:03:01,01:03:01; DPB1*04:01:01G,04:02:01G; DQA1*01:02:01,01:02:01; DQB1*06:02:01,06:02:01; DRB1*15:01:01,15:01:01; DRB5*01:01:01,01:01:01 (PubMed=29959025).
CC   Sequence variation: Mutation; HGNC; 2625; CYP2D6; Simple; p.Arg296Cys (c.886C>T); ClinVar=VCV000242771; Zygosity=Heterozygous; Note=CYP2D6*2 allele (Coriell=GM17236).
CC   Sequence variation: Mutation; HGNC; 2625; CYP2D6; Simple; p.Ser486Thr (c.1457G>C); ClinVar=VCV000242701; Zygosity=Heterozygous; Note=CYP2D6*2 allele (Coriell=GM17236).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: DNA methylation analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   26Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 30-01-24; Version: 20
//
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
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;
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;
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;
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).
//