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Cellosaurus ND40064 (CVCL_EZ42)

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Cell line name ND40064
Accession CVCL_EZ42
Resource Identification Initiative To cite this cell line use: ND40064 (RRID:CVCL_EZ42)
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[366]; ClinVar=VCV000561195; Zygosity=Heterozygous (NHCDR=ND40064).
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1066]; ClinVar=VCV000561195; Zygosity=Heterozygous (NHCDR=ND40064).
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 26Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; ND40064 - Discontinued
NHCDR; ND40064
Encyclopedic resources Wikidata; Q54930145
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number12