Cellosaurus cell line FRDA50 (CVCL

Cellosaurus FRDA50 (CVCL_ZC06)

Cross-references
Cell line name	FRDA50
Synonyms	F50; 50
Accession	CVCL_ZC06
Resource Identification Initiative	To cite this cell line use: FRDA50 (RRID:CVCL_ZC06)
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[353]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638). Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[616]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638).
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	33Y
Category	Finite cell line
Publications	PubMed=27002638; DOI=10.1089/bio.2015.0117; PMCID=PMC4991587 Li Y.-J., Polak U., Clark A.D., Bhalla A.D., Chen Y.-Y., Li J.-X., Farmer J., Seyer L., Lynch D.R., Butler J.S., Napierala M. Establishment and maintenance of primary fibroblast repositories for rare diseases -- Friedreich's ataxia example. Biopreserv. Biobank. 14:324-329(2016) 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)
Encyclopedic resources	Wikidata; Q98126262
Entry history
Entry creation	02-Jul-2020
Last entry update	10-Apr-2025
Version number	9