Cellosaurus cell line ZZUNEUi027-A (CVCL

Cross-references
Cell line name	ZZUNEUi027-A
Accession	CVCL_B7T2
Resource Identification Initiative	To cite this cell line use: ZZUNEUi027-A (RRID:CVCL_B7T2)
Comments	From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Tyr43Cys (c.128A>G); ClinVar=VCV000067182; Zygosity=Heterozygous (PubMed=35700634).
Disease	Long QT syndrome 2 (NCIt: C137957) Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	16Y
Category	Induced pluripotent stem cell
Publications	PubMed=35700634; DOI=10.1016/j.scr.2022.102836 Zhao J.-T., Wang L., Zhu K., Chen X.-W., Qin F., Li X.-W., Dong J.-Z., Tao H.-L. Human induced pluripotent stem cell line ZZUNEUi027-A generated from a long QT syndrome patient with a heterozygous KCNH2 (c. 128 A > G) mutant. Stem Cell Res. 63:102836-102836(2022)
Cell line databases/resources	hPSCreg; ZZUNEUi027-A
Biological sample resources	BioSamples; SAMEA14328246
Encyclopedic resources	Wikidata; Q112930601
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5