ID   FRDA281
AC   CVCL_ZB93
SY   F281; 281
DR   Wikidata; Q98126248
RX   PubMed=27002638;
RX   PubMed=29125828;
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[630]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638; PubMed=29125828).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[806]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=27002638; PubMed=29125828).
CC   Omics: Transcriptome analysis by 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   19Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
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=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).
//