Cellosaurus cell line ZJYYPHi001-A (CVCL

Cross-references
Cell line name	ZJYYPHi001-A
Accession	CVCL_B5GQ
Resource Identification Initiative	To cite this cell line use: ZJYYPHi001-A (RRID:CVCL_B5GQ)
Comments	From: Yuyao People's Hospital of Zhejiang Province; Yuyao city; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:10593; SCN5A; Simple; p.Arg513Cys (c.1537C>T); ClinVar=VCV000201456; Zygosity=Heterozygous (PubMed=34678660).
Disease	Long QT syndrome 3 (NCIt: C137959) Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	28Y
Category	Induced pluripotent stem cell
Publications	PubMed=34678660; DOI=10.1016/j.scr.2021.102576 Jia-Nan Chen, Ye-Sang Song, Jun-Qing Gu, Lian Chen; Reprogramming of a human induced pluripotent stem cell line from a long QT syndrome patient harboring a heterozygous mutation of c.1537C>T in SCN5A gene. Stem Cell Res. 57:102576-102576(2021)
Cell line databases/resources	hPSCreg; ZJYYPHi001-A
Encyclopedic resources	Wikidata; Q110434441
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5