ID   GM07521
AC   CVCL_7468
SY   GM17274
DR   CLO; CLO_0013193
DR   CLO; CLO_0016442
DR   Coriell; GM07521
DR   Coriell; GM17274
DR   GEO; GSM569730
DR   GEO; GSM596338
DR   GEO; GSM596760
DR   GEO; GSM924876
DR   Wikidata; Q54842821
RX   CelloPub=CLPUB00447;
RX   PubMed=18485778;
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*02:05:01,26:01:01; B*38:01:01,58:01:01; C*07:18,12:03:01; DPA1*01:03:01,01:03:01; DPB1*04:01:01,04:01:01; DQA1*03:01:01,03:01:01; DQB1*03:02:01,03:02:01; DRB1*04:02:01,04:02:01; DRB4*01:03:01,01:03:01 (PubMed=29959025).
CC   Sequence variation: Mutation; HGNC; 2625; CYP2D6; Simple; p.Arg296Cys (c.886C>T); ClinVar=VCV000242771; Zygosity=Heterozygous; Note=CYP2D6*2 allele (Coriell=GM17274).
CC   Sequence variation: Mutation; HGNC; 2625; CYP2D6; Simple; p.Ser486Thr (c.1457G>C); ClinVar=VCV000242701; Zygosity=Heterozygous; Note=CYP2D6*2 allele (Coriell=GM17274).
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)
OI   CVCL_F162 ! GM07522
SX   Female
AG   19Y
CA   Transformed cell line
DT   Created: 04-04-12; 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=18485778; DOI=10.1016/j.ymgme.2008.03.019;
RA   Willis J.H., Isaya G., Gakh O., Capaldi R.A., Marusich M.F.;
RT   "Lateral-flow immunoassay for the frataxin protein in Friedreich's
RT   ataxia patients and carriers.";
RL   Mol. Genet. Metab. 94:491-497(2008).
//
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).
//