Cellosaurus cell line FRDA6247 (CVCL

Entry history
Cell line name	FRDA6247
Synonyms	F6247; 6247
Accession	CVCL_E6ED
Resource Identification Initiative	To cite this cell line use: FRDA6247 (RRID:CVCL_E6ED)
Comments	Part of: Friedreich's ataxia primary fibroblast repository. Omics: Lipidomics. Omics: Metabolomics. 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[478]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=35850241). Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1017]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=35850241).
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	33Y
Category	Finite cell line
Publications	PubMed=35850241; DOI=10.1016/j.jlr.2022.100255; PMCID=PMC9399481 Wang D.-Z., Ho E.S., Cotticelli M.G., Xu J.P.-N., Napierala J.S., Hauser L.A., Napierala M., Himes B.E., Wilson R.B., Lynch D.R., Mesaros C. Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia. J. Lipid Res. 63:100255.1-100255.14(2022)
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1