ID   USFi001-A
AC   CVCL_A6XD
SY   1CN1.5
DR   BioSamples; SAMEA8192624
DR   hPSCreg; USFi001-A
DR   Wikidata; Q107117353
RX   PubMed=34034220;
CC   From: University of South Florida; Tampa; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[781]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=34034220).
CC   Sequence variation: Mutation; HGNC; 3951; FXN; Repeat_expansion; IVS1 GAA[1092]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=34034220).
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   34Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34034220; DOI=10.1016/j.scr.2021.102399;
RA   Burgos Angulo M., Yang J.-J., Argenziano M.A., Bertalovitz A.C.,
RA   Beidokhti M.N., McDonald T.V.;
RT   "Generation of a Friedreich's ataxia patient-derived iPSC line
RT   USFi001-A.";
RL   Stem Cell Res. 54:102399-102399(2021).
//