ID   CJUHi001-A
AC   CVCL_C6TW
DR   hPSCreg; CJUHi001-A
DR   Wikidata; Q117704254
RX   PubMed=36459834;
CC   From: China-Japan Union Hospital; Changchun City; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:10548; ATXN1; Repeat_expansion; CAG[44]; Zygosity=Heterozygous (PubMed=36459834).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129982; Spinocerebellar ataxia type 1
DI   ORDO; Orphanet_98755; Spinocerebellar ataxia type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=36459834; DOI=10.1016/j.scr.2022.102975;
RA   Jin, Yin-Shi
RA   Nan, Guang-Xian
RT   "Generation of induced pluripotent stem cell (iPSC) line CJUHi001-A
RT   derived peripheral blood mononuclear cells of spinocerebellar ataxia
RT   type 1 (SCA1) the CAG repeat mutation in ATXN1 gene.";
RL   Stem Cell Res. 66:102975-102975(2023).
//