ID   ZZUi021-A
AC   CVCL_A3ZI
SY   ZZU-iPS-SCA19-KCND3-001; ZZUi0021-SCA19-KCND3-001
DR   BioSamples; SAMEA7807669
DR   hPSCreg; ZZUi021-A
DR   Wikidata; Q105511882
RX   PubMed=34087979;
CC   From: The First Affiliated Hospital of Zhengzhou University; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:6239; KCND3; Simple; p.Thr377Met (c.1130C>T); ClinVar=VCV000626319; Zygosity=Heterozygous (PubMed=34087979).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C163756; Spinocerebellar ataxia type 19/22
DI   ORDO; Orphanet_98772; Spinocerebellar ataxia type 19/22
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   23Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 14-08-25; Version: 8
//
RX   PubMed=34087979; DOI=10.1016/j.scr.2021.102320;
RA   Liu, Fen
RA   Fan, Yu
RA   Fan, Li-Yuan
RA   Li, Meng-Jie
RA   Zhang, Qi-Meng
RA   Mao, Cheng-Yuan
RA   Wu, Jun
RA   Zhang, Shuo
RA   Hu, Zheng-Wei
RA   Shi, Chang-He
RA   Xu, Yu-Ming
RT   "Generation of induced pluripotent stem cell line (ZZUi0021-A) from a
RT   patient with spinocerebellar ataxia type 19.";
RL   Stem Cell Res. 53:102320-102320(2021).
//