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 Jill Sergesketter Napierala, Yan-Jie Li, Yue Lu, Kevin Lin, Lauren A. Hauser, David R. Lynch, Marek Napierala; 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 Julia Oliwia Misiorek, Anna Maria Schreiber, Martyna Olga Urbanek-Trzeciak, Lauren A. Hauser, David R. Lynch, Jill Sergesketter Napierala, Marek Napierala; 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