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Cellosaurus GM20238 (CVCL_AY45)

[Text version]
Cell line name GM20238
Accession CVCL_AY45
Resource Identification Initiative To cite this cell line use: GM20238 (RRID:CVCL_AY45)
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; 3775; FMR1; Repeat_expansion; CGG[29]; ClinVar=VCV000009972; Zygosity=Heterozygous (Coriell=GM20238).
  • Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[30]; ClinVar=VCV000009972; Zygosity=Heterozygous (Coriell=GM20238).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 44Y
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; GM20238
Cell line databases/resources CLO; CLO_0027844
Encyclopedic resources Wikidata; Q54850860
Entry history
Entry creation02-May-2016
Last entry update30-Jan-2024
Version number11