ID   GM14090
AC   CVCL_7539
DR   CLO; CLO_0034043
DR   Coriell; GM14090
DR   Wikidata; Q54847036
RX   PubMed=19767587;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Sequence variation: Mutation; HGNC; 1100; BRCA1; Simple; p.Glu23Valfs*17 (c.68_69delAG) (c.66_67AG[1]) (185delAG); ClinVar=VCV000017662; Zygosity=Unspecified (Coriell=GM14090).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C36100; BRCA1-associated hereditary breast and ovarian cancer syndrome
DI   ORDO; Orphanet_145; Hereditary breast and ovarian cancer syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   43Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 20
//
RX   PubMed=19767587; DOI=10.2353/jmoldx.2009.090078;
RA   Barker S.D., Bale S., Booker J., Buller-Burckle A.M., Das S.,
RA   Friedman K., Godwin A.K., Grody W.W., Highsmith W.E. Jr., Kant J.A.,
RA   Lyon E., Mao R., Monaghan K.G., Payne D.A., Pratt V.M., Schrijver I.,
RA   Shrimpton A.E., Spector E.B., Telatar M., Toji L.H., Weck K.E.,
RA   Zehnbauer B.A., Kalman L.V.;
RT   "Development and characterization of reference materials for MTHFR,
RT   SERPINA1, RET, BRCA1, and BRCA2 genetic testing.";
RL   J. Mol. Diagn. 11:553-561(2009).
//