Cellosaurus cell line FRDA4497 (CVCL

Cellosaurus FRDA4497 (CVCL_ZC01)

Cross-references
Cell line name	FRDA4497
Synonyms	F4497; 4497
Accession	CVCL_ZC01
Resource Identification Initiative	To cite this cell line use: FRDA4497 (RRID:CVCL_ZC01)
Comments	Omics: Transcriptome analysis by 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[526]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638; PubMed=29125828). Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[826]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638; PubMed=29125828).
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	44Y
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) 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)
Encyclopedic resources	Wikidata; Q98126254
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8