Cellosaurus cell line FRDA4078 (CVCL

Entry history
Cell line name	FRDA4078
Synonyms	F4078; 4078
Accession	CVCL_E6E7
Resource Identification Initiative	To cite this cell line use: FRDA4078 (RRID:CVCL_E6E7)
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[341]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=35850241). Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[480]; 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	Male
Age at sampling	30Y
Category	Finite cell line
Publications	PubMed=35850241; DOI=10.1016/j.jlr.2022.100255; PMCID=PMC9399481 De-Zhen Wang, Elaine S. Ho, M. Grazia Cotticelli, Jimmy Pei-Ning Xu, Jill Sergesketter Napierala, Lauren A. Hauser, Marek Napierala, Blanca E. Himes, Robert B. Wilson, David R. Lynch, Clementina Mesaros; 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