ID   GM16243
AC   CVCL_U752
DR   CLO; CLO_0019452
DR   Coriell; GM16243
DR   Wikidata; Q54848402
RX   PubMed=18485778;
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[~670]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM16243).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[~1170]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM16243).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84718; Friedreich ataxia
DI   ORDO; Orphanet_95; Friedreich ataxia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   23Y
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 15
//
RX   PubMed=18485778; DOI=10.1016/j.ymgme.2008.03.019; PMCID=PMC2692602;
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).
//