ID   FRDA50
AC   CVCL_ZC06
SY   50
DR   Wikidata; Q98126262
RX   PubMed=27002638;
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   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: 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).
//