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Cellosaurus iPS FRDA68 Pi1 (CVCL_ZC10)

[Text version]
Cell line name iPS FRDA68 Pi1
Synonyms Pi1
Accession CVCL_ZC10
Resource Identification Initiative To cite this cell line use: iPS FRDA68 Pi1 (RRID:CVCL_ZC10)
Comments 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[570]; ClinVar=VCV000561195; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1200]; ClinVar=VCV000561195; Zygosity=Heterozygous (from parent cell line).
Disease Friedreich ataxia (NCIt: C84718)
Friedreich ataxia (ORDO: Orphanet_95)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZC08 (FRDA68)
Sex of cell Female
Age at sampling 21Y
Category Induced pluripotent stem cell
Publications

PubMed=25758173; DOI=10.1038/mt.2015.41; PMCID=PMC4817761
Li Y.-J., Polak U., Bhalla A.D., Rozwadowska N., Butler J.S., Lynch D.R., Dent S.Y.R., Napierala M.
Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich's ataxia.
Mol. Ther. 23:1055-1065(2015)

Cross-references
Encyclopedic resources Wikidata; Q98126785
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8