Cellosaurus cell line FRDA4194 (CVCL

Cross-references
Cell line name	FRDA4194
Synonyms	4194
Accession	CVCL_ZB97
Resource Identification Initiative	To cite this cell line use: FRDA4194 (RRID:CVCL_ZB97)
Comments	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; Simple; p.Gly130Val (c.389G>T); ClinVar=VCV000003982; Zygosity=Heterozygous (PubMed=27002638). Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[540]; 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	Female
Age at sampling	23Y
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)
Encyclopedic resources	Wikidata; Q98126250
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8