Cellosaurus cell line GM16658 (CVCL

Cross-references
Cell line name	GM16658
Accession	CVCL_AB15
Resource Identification Initiative	To cite this cell line use: GM16658 (RRID:CVCL_AB15)
Comments	Part of: Genetic Testing Reference Material (GeT-RM) samples. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9967; RET; Simple; p.Cys620Phe (c.1859G>T); ClinVar=VCV000013928; Zygosity=Heterozygous (PubMed=19767587).
Disease	Multiple endocrine neoplasia type 2 (NCIt: C123329) Multiple endocrine neoplasia type 2 (ORDO: Orphanet_653)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	64Y
Category	Transformed cell line
Publications	PubMed=19767587; DOI=10.2353/jmoldx.2009.090078; PMCID=PMC2765754 Barker S.D., Bale S., Booker J., Buller-Burckle A.M., Das S., Friedman K., Godwin A.K., Grody W.W., Highsmith W.E. Jr., Kant J.A., Lyon E., Mao R., Monaghan K.G., Payne D.A., Pratt V.M., Schrijver I., Shrimpton A.E., Spector E.B., Telatar M., Toji L.H., Weck K.E., Zehnbauer B.A., Kalman L.V. Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. J. Mol. Diagn. 11:553-561(2009)
Cell line collections (Providers)	Coriell; GM16658
Cell line databases/resources	CLO; CLO_0017359
Encyclopedic resources	Wikidata; Q54848689
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	12