ID   GM16660
AC   CVCL_AB17
DR   CLO; CLO_0017458
DR   Coriell; GM16660
DR   Wikidata; Q54848691
RX   PubMed=19767587;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Sequence variation: Mutation; HGNC; HGNC:9967; RET; Simple; p.Cys618Ser (c.1853G>C); ClinVar=VCV000013914; 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   Male
AG   57Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 12
//
RX   PubMed=19767587; DOI=10.2353/jmoldx.2009.090078; PMCID=PMC2765754;
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).
//