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Cellosaurus GM14090 (CVCL_7539)

[Text version]
Cell line name GM14090
Accession CVCL_7539
Resource Identification Initiative To cite this cell line use: GM14090 (RRID:CVCL_7539)
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.Glu23Valfs*17 (c.68_69delAG) (c.66_67AG[1]) (185delAG); ClinVar=VCV000017662; Zygosity=Unspecified (Coriell=GM14090).
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 43Y
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; GM14090
Cell line databases/resources CLO; CLO_0034043
Encyclopedic resources Wikidata; Q54847036
Entry history
Entry creation04-Apr-2012
Last entry update30-Jan-2024
Version number20