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Cellosaurus FRDA179 (CVCL_E6E5)

[Text version]
Cell line name FRDA179
Synonyms F179; 179
Accession CVCL_E6E5
Resource Identification Initiative To cite this cell line use: FRDA179 (RRID:CVCL_E6E5)
Comments Part of: Friedreich's ataxia primary fibroblast repository.
Omics: Transcriptomics; RNAseq.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[600]; ClinVar=VCV000561195; Zygosity=Heterozygous (ABM=T5480).
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[920]; ClinVar=VCV000561195; Zygosity=Heterozygous (ABM=T5480).
Disease Friedreich ataxia (NCIt: C84718)
Friedreich ataxia (ORDO: Orphanet_95)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 37Y
Category Finite cell line
Cross-references
Cell line collections (Providers) ABM; T5480
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1