ID   GM20730
AC   CVCL_DB00
DR   CLO; CLO_0028982
DR   Coriell; GM20730
DR   Wikidata; Q54851224
RX   PubMed=19767587;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Sequence variation: Mutation; HGNC; 7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Heterozygous (Coriell=GM20730).
CC   Sequence variation: Mutation; HGNC; 7436; MTHFR; Simple; p.Glu429Ala (c.1286A>C) (1298A>C); ClinVar=VCV000003521; Zygosity=Homozygous (Coriell=GM20730).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   44Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 30-01-24; Version: 13
//
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).
//