ID   GM11410
AC   CVCL_N180
SY   GM17078
DR   CLO; CLO_0014612
DR   CLO; CLO_0020787
DR   Coriell; GM11410
DR   Coriell; GM17078
DR   Wikidata; Q54845066
RX   CelloPub=CLPUB00447;
RX   PubMed=20889555;
RX   PubMed=29959025;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Part of: Human variation panel.
CC   Population: Puerto Rican.
CC   HLA typing: A*30:04:01,68:02:01; B*44:03:02,57:03:01; C*07:01:02,07:06; DPA1*01:03:01,02:01:01; DPB1*01:01:02,18:01; DQA1*01:05:01,02:01:01; DQB1*02:02:01,05:01:01; DRB1*07:01:01,12:01:01G; DRB3*02:02:01; DRB4*01:01:01 (PubMed=29959025).
CC   Sequence variation: Mutation; HGNC; 583; APC; Simple; p.Ala1050Glufs*6 (c.3149delC); ClinVar=VCV000183078; Zygosity=Heterozygous (Coriell=GM11410).
CC   Sequence variation: Mutation; HGNC; 2623; CYP2C9; Simple; p.Arg144Cys (c.430C>T) (416C>T); ClinVar=VCV000008409; Zygosity=Heterozygous; Note=CYP2C9*2 allele (Coriell=GM17078).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3339; Familial adenomatous polyposis
DI   ORDO; Orphanet_733; Familial adenomatous polyposis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_N181 ! GM11477
SX   Male
AG   43Y
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=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).
//