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Cellosaurus GM23404 (CVCL_F192)

[Text version]
Cell line name GM23404
Synonyms GM23404*C
Accession CVCL_F192
Resource Identification Initiative To cite this cell line use: GM23404 (RRID:CVCL_F192)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[330]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM23404).
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[380]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM23404).
Disease Friedreich ataxia (NCIt: C84718)
Friedreich ataxia (ORDO: Orphanet_95)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F193 (GM03816)
Sex of cell Female
Age at sampling 36Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM23404
Cell line databases/resources SKIP; SKIP000189
SKIP; SKIP004363
Encyclopedic resources Wikidata; Q54853050
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number20