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Cellosaurus GM13715 (CVCL_W413)

[Text version]
Cell line name GM13715
Accession CVCL_W413
Resource Identification Initiative To cite this cell line use: GM13715 (RRID:CVCL_W413)
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; 1100; BRCA1; Simple; p.Gln1756Profs*74 (c.5266dupC) (5382insC); ClinVar=VCV000017677; Zygosity=Unspecified (Coriell=GM13715).
Disease BRCA1-associated hereditary breast and ovarian cancer syndrome (NCIt: C36100)
Hereditary breast and ovarian cancer syndrome (ORDO: Orphanet_145)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 56Y
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)

Cross-references
Cell line collections (Providers) Coriell; GM13715
Cell line databases/resources CLO; CLO_0032793
Biological sample resources BioSample; SAMN00802568
Encyclopedic resources Wikidata; Q54846748
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number18