ID   FRDA50
AC   CVCL_ZC06
SY   F50; 50
DR   Wikidata; Q98126262
RX   PubMed=27002638;
RX   PubMed=35850241;
CC   Part of: Friedreich's ataxia primary fibroblast repository.
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[353]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[616]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638).
CC   Omics: Lipidomics.
CC   Omics: Metabolomics.
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84718; Friedreich ataxia
DI   ORDO; Orphanet_95; Friedreich ataxia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   33Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 10-04-25; Version: 9
//
RX   PubMed=27002638; DOI=10.1089/bio.2015.0117; PMCID=PMC4991587;
RA   Li Y.-J., Polak U., Clark A.D., Bhalla A.D., Chen Y.-Y., Li J.-X.,
RA   Farmer J., Seyer L., Lynch D.R., Butler J.S., Napierala M.;
RT   "Establishment and maintenance of primary fibroblast repositories for
RT   rare diseases -- Friedreich's ataxia example.";
RL   Biopreserv. Biobank. 14:324-329(2016).
//
RX   PubMed=35850241; DOI=10.1016/j.jlr.2022.100255; PMCID=PMC9399481;
RA   Wang D.-Z., Ho E.S., Cotticelli M.G., Xu J.P.-N., Napierala J.S.,
RA   Hauser L.A., Napierala M., Himes B.E., Wilson R.B., Lynch D.R.,
RA   Mesaros C.;
RT   "Skin fibroblast metabolomic profiling reveals that lipid dysfunction
RT   predicts the severity of Friedreich's ataxia.";
RL   J. Lipid Res. 63:100255.1-100255.14(2022).
//