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 Yan-Jie Li, Urszula Polak, Amanda D. Clark, Angela D. Bhalla, Yu-Yun Chen, Ji-Xue Li, Jennifer Farmer, Lauren Seyer, David R. Lynch, Jill S. Butler, Marek Napierala; 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 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)
Encyclopedic resources	Wikidata; Q98126262
Entry history
Entry creation	02-Jul-2020
Last entry update	10-Apr-2025
Version number	9