Cellosaurus cell line FRDA4491 (CVCL

Cross-references
Cell line name	FRDA4491
Synonyms	F4491; 4491
Accession	CVCL_ZC00
Resource Identification Initiative	To cite this cell line use: FRDA4491 (RRID:CVCL_ZC00)
Comments	Part of: Friedreich's ataxia primary fibroblast repository. 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[559]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638). Mutation; HGNC; HGNC:3951; FXN; Simple; p.Gly130Val (c.389G>T); ClinVar=VCV000003982; Zygosity=Heterozygous (PubMed=27002638).
Disease	Friedreich ataxia (NCIt: C84718) Friedreich ataxia (ORDO: Orphanet_95)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
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)
Encyclopedic resources	Wikidata; Q98126253
Entry history
Entry creation	02-Jul-2020
Last entry update	10-Apr-2025
Version number	9