ID   GZHMCi010-A
AC   CVCL_C0IC
SY   SCA3-iPSC2; SCA3-HJY
DR   hPSCreg; GZHMCi010-A
DR   Wikidata; Q112929637
RX   PubMed=35421843;
CC   From: The Third Affiliated Hospital of Guangzhou Medical College; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 7106; ATXN3; Repeat_expansion; c.892CAG[74]; Zygosity=Heterozygous; Note=The other allele has 14 repeats (PubMed=35421843).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84830; Spinocerebellar ataxia type 3
DI   ORDO; Orphanet_98757; Spinocerebellar ataxia type 3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35421843; DOI=10.1016/j.scr.2022.102782;
RA   Yang Y.-H., Luo Q., Song B., Xie Y.-J., He W.-Z., Chen B.-Z.,
RA   Sun X.-F.;
RT   "Generation of two induced pluripotent stem cell lines, GZHMCi009-A
RT   and GZHMCi010-A, derived from peripheral blood mononuclear cells of
RT   two SCA3 patients with 14/74 CAG repeats of the ATXN3 mutation.";
RL   Stem Cell Res. 61:102782-102782(2022).
//