ID   GM15848
AC   CVCL_0U93
DR   CLO; CLO_0027778
DR   Coriell; GM15848
DR   Wikidata; Q54848230
RX   PubMed=18485778;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[830]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM15848).
CC   Sequence variation: Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[<30]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM15848).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   46Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 10-04-25; Version: 16
//
RX   PubMed=18485778; DOI=10.1016/j.ymgme.2008.03.019; PMCID=PMC2692602;
RA   Willis, John H.
RA   Isaya, Grazia
RA   Gakh, Oleksandr
RA   Capaldi, Roderick A.
RA   Marusich, Michael 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).
//