Cellosaurus cell line FRDA4654 (CVCL

Cellosaurus FRDA4654 (CVCL_ZC04)

Cross-references
Cell line name	FRDA4654
Synonyms	F4654; 4654
Accession	CVCL_ZC04
Resource Identification Initiative	To cite this cell line use: FRDA4654 (RRID:CVCL_ZC04)
Comments	Part of: Friedreich's ataxia primary fibroblast repository. Omics: Transcriptomics; RNAseq. 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[190]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=29125828; PubMed=32291635). Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[500]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=29125828; 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	19Y
Category	Finite cell line
Publications	PubMed=29125828; DOI=10.1242/dmm.030536; PMCID=PMC5719256 Napierala J.S., Li Y.-J., Lu Y., Lin K., Hauser L.A., Lynch D.R., Napierala M. Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers. Dis. Model. Mech. 10:1353-1369(2017) 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)	Kerafast; ECP002
Encyclopedic resources	Wikidata; Q98126259
Gene expression databases	GEO; GSM2794431
Entry history
Entry creation	02-Jul-2020
Last entry update	10-Apr-2025
Version number	9