ID   IBCHi002-A
AC   CVCL_XC41
SY   iPSC_SCA3; iSCA3-34
DR   hPSCreg; IBCHi002-A
DR   Wikidata; Q94312592
RX   PubMed=32361312;
CC   From: Institute of Bioorganic Chemistry Polish Academy of Sciences; Poznan; Poland.
CC   Population: Caucasian; Portuguese.
CC   Sequence variation: Mutation; HGNC; 7106; ATXN3; Repeat_expansion; c.892CAG[71]; Zygosity=Heterozygous; Note=The other allele has 23 repeats (PubMed=32361312).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84830; Spinocerebellar ataxia type 3
DI   ORDO; Orphanet_98757; Spinocerebellar ataxia type 3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_7452 ! GM06153
SX   Male
AG   44Y
CA   Induced pluripotent stem cell
DT   Created: 06-09-19; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32361312; DOI=10.1016/j.scr.2020.101796;
RA   Ciolak A., Krzyzosiak W.J., Kozlowska E., Fiszer A.;
RT   "Generation of human iPS cell line IBCHi002-A from spinocerebellar
RT   ataxia type 3/Machado-Joseph disease patient's fibroblasts.";
RL   Stem Cell Res. 45:101796-101796(2020).
//