Cellosaurus cell line ZZUi022-A (CVCL

Cross-references
Cell line name	ZZUi022-A
Synonyms	ZZU-PKD-PRRT2 iPSC
Accession	CVCL_A3ZJ
Resource Identification Initiative	To cite this cell line use: ZZUi022-A (RRID:CVCL_A3ZJ)
Comments	From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China. Population: Chinese; Han. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:30500; PRRT2; Simple; p.Gln179Ter (c.535C>T); ClinVar=VCV001352762; Zygosity=Heterozygous (PubMed=33550051).
Disease	Episodic kinesigenic dyskinesia-1 (NCIt: C178413) Paroxysmal kinesigenic dyskinesia (ORDO: Orphanet_98809)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	20Y
Category	Induced pluripotent stem cell
Publications	PubMed=33550051; DOI=10.1016/j.scr.2021.102210 Fan L.-Y., Mao C.-Y., Shi C.-H., Fan Y., Liu F., Zheng H.-M., Su Y., Liu H., Wang Y.-L., Liu Y.-T., Yang J., Xu Y.-M. Generation of an induced pluripotent stem cell line (ZZUi022-A) from a paroxysmal kinesigenic dyskinesia individual carrying the PRRT2 gene mutation. Stem Cell Res. 51:102210-102210(2021)
Cell line databases/resources	hPSCreg; ZZUi022-A
Encyclopedic resources	Wikidata; Q105511884
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	7