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Cellosaurus GM20730 (CVCL_DB00)

[Text version]
Cell line name GM20730
Accession CVCL_DB00
Resource Identification Initiative To cite this cell line use: GM20730 (RRID:CVCL_DB00)
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; 7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Heterozygous (Coriell=GM20730).
  • Mutation; HGNC; 7436; MTHFR; Simple; p.Glu429Ala (c.1286A>C) (1298A>C); ClinVar=VCV000003521; Zygosity=Homozygous (Coriell=GM20730).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 44Y
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; GM20730
Cell line databases/resources CLO; CLO_0028982
Encyclopedic resources Wikidata; Q54851224
Entry history
Entry creation13-Jul-2016
Last entry update30-Jan-2024
Version number13