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Cellosaurus GM16223 (CVCL_U745)

[Text version]
Cell line name GM16223
Accession CVCL_U745
Resource Identification Initiative To cite this cell line use: GM16223 (RRID:CVCL_U745)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[400]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM16223).
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[630]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM16223).
Disease Friedreich ataxia (NCIt: C84718)
Friedreich ataxia (ORDO: Orphanet_95)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 41Y
Category Transformed cell line
Publications

PubMed=18485778; DOI=10.1016/j.ymgme.2008.03.019; PMCID=PMC2692602
Willis J.H., Isaya G., Gakh O., Capaldi R.A., Marusich M.F.
Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers.
Mol. Genet. Metab. 94:491-497(2008)

Cross-references
Cell line collections (Providers) Coriell; GM16223
Cell line databases/resources CLO; CLO_0019297
Encyclopedic resources Wikidata; Q54848384
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number15