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Cellosaurus GM23443 (CVCL_BV69)

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Cell line name GM23443
Accession CVCL_BV69
Resource Identification Initiative To cite this cell line use: GM23443 (RRID:CVCL_BV69)
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[~160]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM23443).
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[~947]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM23443).
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 42Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23443
Encyclopedic resources Wikidata; Q54853083
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12