ID   FRDA130
AC   CVCL_ZB89
SY   F130; 130
DR   ABM; T5442
DR   GEO; GSM2794418
DR   Wikidata; Q98126242
RX   PubMed=29125828;
RX   PubMed=32291635;
CC   Part of: Friedreich's ataxia primary fibroblast repository.
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[136]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=29125828).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[540]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=29125828).
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   Male
AG   56Y
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).
//