ID   ZZUi022-A
AC   CVCL_A3ZJ
SY   ZZU-PKD-PRRT2 iPSC
DR   hPSCreg; ZZUi022-A
DR   Wikidata; Q105511884
RX   PubMed=33550051;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 30500; PRRT2; Simple; p.Gln179Ter (c.535C>T); ClinVar=VCV001352762; Zygosity=Heterozygous (PubMed=33550051).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C178413; Episodic kinesigenic dyskinesia-1
DI   ORDO; Orphanet_98809; Paroxysmal kinesigenic dyskinesia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 6
//
RX   PubMed=33550051; DOI=10.1016/j.scr.2021.102210;
RA   Fan L.-Y., Mao C.-Y., Shi C.-H., Fan Y., Liu F., Zheng H.-M., Su Y.,
RA   Liu H., Wang Y.-L., Liu Y.-T., Yang J., Xu Y.-M.;
RT   "Generation of an induced pluripotent stem cell line (ZZUi022-A) from
RT   a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene
RT   mutation.";
RL   Stem Cell Res. 51:102210-102210(2021).
//