Cellosaurus cell line FRDA4743 (CVCL

Cross-references
Cell line name	FRDA4743
Synonyms	F4743; 4743
Accession	CVCL_E6E0
Resource Identification Initiative	To cite this cell line use: FRDA4743 (RRID:CVCL_E6E0)
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[498]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=32291635). Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1043]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=32291635).
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	29Y
Category	Finite cell line
Publications	PubMed=32291635; DOI=10.1007/s12035-020-01899-1; PMCID=PMC7253519 Misiorek J.O., Schreiber A.M., Urbanek-Trzeciak M.O., Hauser L.A., Lynch D.R., Napierala J.S., Napierala M. A comprehensive transcriptome analysis identifies FXN and BDNF as novel targets of miRNAs in Friedreich's ataxia patients. Mol. Neurobiol. 57:2639-2653(2020)
Cell line collections (Providers)	ABM; T5477
Entry history
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1