ID   GM16658
AC   CVCL_AB15
DR   CLO; CLO_0017359
DR   Coriell; GM16658
DR   Wikidata; Q54848689
RX   PubMed=19767587;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Sequence variation: Mutation; HGNC; 9967; RET; Simple; p.Cys620Phe (c.1859G>T); ClinVar=VCV000013928; Zygosity=Heterozygous (PubMed=19767587).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123329; Multiple endocrine neoplasia type 2
DI   ORDO; Orphanet_653; Multiple endocrine neoplasia type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   64Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 11
//
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).
//