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Cellosaurus GM20235 (CVCL_AY42)

[Text version]
Cell line name GM20235
Accession CVCL_AY42
Resource Identification Initiative To cite this cell line use: GM20235 (RRID:CVCL_AY42)
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:3775; FMR1; Repeat_expansion; CGG[29]; ClinVar=VCV000009972; Zygosity=Heterozygous (Coriell=GM20235).
  • Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[45]; ClinVar=VCV000009972; Zygosity=Heterozygous (Coriell=GM20235).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 31Y
Category Transformed cell line
Publications

PubMed=18165276; DOI=10.2353/jmoldx.2008.070105; PMCID=PMC2175538
Wilson J.A., Pratt V.M., Phansalkar A., Muralidharan K., Highsmith W.E. Jr., Beck J.C., Bridgeman S., Courtney E.M., Epp L., Ferreira-Gonzalez A., Hjelm N.L., Holtegaard L.M., Jama M.A., Jakupciak J.P., Johnson M.A., Labrousse P., Lyon E., Prior T.W., Richards C.S., Richie K.L., Roa B.B., Rohlfs E.M., Sellers T., Sherman S.L., Siegrist K.A., Silverman L.M., Wiszniewska J., Kalman L.V.
Fragile Xperts Working Group of the Association for Molecular Pathology Clinical Practice Committee
Consensus characterization of 16 FMR1 reference materials: a consortium study.
J. Mol. Diagn. 10:2-12(2008)

Cross-references
Cell line collections (Providers) Coriell; GM20235
Cell line databases/resources CLO; CLO_0027978
Encyclopedic resources Wikidata; Q54850857
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12