ID   GM15850
AC   CVCL_U734
DR   CLO; CLO_0027780
DR   EFO; EFO_0006276
DR   Coriell; GM15850
DR   GEO; GSM113813
DR   GEO; GSM113814
DR   GEO; GSM113815
DR   GEO; GSM113816
DR   GEO; GSM113817
DR   GEO; GSM113818
DR   GEO; GSM113819
DR   GEO; GSM113820
DR   GEO; GSM113821
DR   GEO; GSM113822
DR   GEO; GSM113823
DR   GEO; GSM113824
DR   Wikidata; Q54848235
RX   PubMed=18485778;
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[650]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell).
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[1030]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Transcriptome analysis.
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C84718; Friedreich ataxia
DI   ORDO; Orphanet_95; Friedreich ataxia
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   13Y
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 20-05-21; Version: 14
//
RX   PubMed=18485778; DOI=10.1016/j.ymgme.2008.03.019;
RA   Willis J.H., Isaya G., Gakh O., Capaldi R.A., Marusich M.F.;
RT   "Lateral-flow immunoassay for the frataxin protein in Friedreich's
RT   ataxia patients and carriers.";
RL   Mol. Genet. Metab. 94:491-497(2008).
//