ID   FRDA203
AC   CVCL_ZB92
SY   F203; 203
DR   GEO; GSM2794421
DR   Wikidata; Q98126247
RX   PubMed=29125828;
RX   PubMed=32291635;
RX   PubMed=35850241;
CC   Part of: Friedreich's ataxia primary fibroblast repository.
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[916]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=29125828; PubMed=32291635).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1382]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=29125828; PubMed=32291635).
CC   Omics: Lipidomics.
CC   Omics: Metabolomics.
CC   Omics: Transcriptomics; RNAseq.
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   Female
AG   31Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 10-04-25; Version: 9
//
RX   PubMed=29125828; DOI=10.1242/dmm.030536; PMCID=PMC5719256;
RA   Napierala J.S., Li Y.-J., Lu Y., Lin K., Hauser L.A., Lynch D.R.,
RA   Napierala M.;
RT   "Comprehensive analysis of gene expression patterns in Friedreich's
RT   ataxia fibroblasts by RNA sequencing reveals altered levels of protein
RT   synthesis factors and solute carriers.";
RL   Dis. Model. Mech. 10:1353-1369(2017).
//
RX   PubMed=32291635; DOI=10.1007/s12035-020-01899-1; PMCID=PMC7253519;
RA   Misiorek J.O., Schreiber A.M., Urbanek-Trzeciak M.O., Hauser L.A.,
RA   Lynch D.R., Napierala J.S., Napierala M.;
RT   "A comprehensive transcriptome analysis identifies FXN and BDNF as
RT   novel targets of miRNAs in Friedreich's ataxia patients.";
RL   Mol. Neurobiol. 57:2639-2653(2020).
//
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).
//