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Cellosaurus GM16660 (CVCL_AB17)

[Text version]
Cell line name GM16660
Accession CVCL_AB17
Resource Identification Initiative To cite this cell line use: GM16660 (RRID:CVCL_AB17)
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; 9967; RET; Simple; p.Cys618Ser (c.1853G>C); ClinVar=VCV000013914; 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 Male
Age at sampling 57Y
Category Transformed cell line
Publications

PubMed=19767587; DOI=10.2353/jmoldx.2009.090078
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)

Cross-references
Cell line collections (Providers) Coriell; GM16660
Cell line databases/resources CLO; CLO_0017458
Encyclopedic resources Wikidata; Q54848691
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number11