Cellosaurus cell line YUCMi022-A (CVCL

Cross-references
Cell line name	YUCMi022-A
Synonyms	hiPSC-KCNH2_G53S
Accession	CVCL_E5EA
Resource Identification Initiative	To cite this cell line use: YUCMi022-A (RRID:CVCL_E5EA)
Comments	From: Yonsei University College of Medicine; Seoul; South Korea. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Gly53Ser (c.157G>A); ClinVar=VCV000067214; Zygosity=Heterozygous (PubMed=39454535).
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	36Y
Category	Induced pluripotent stem cell
Publications	PubMed=39454535; DOI=10.1016/j.scr.2024.103592 Dasom Mun, Ji-Young Kang, Malgeum Park, Gyeongseo Yoo, Hyoeun Kim, Nuri Yun, You Mi Hwang, Boyoung Joung; Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation. Stem Cell Res. 81:103592-103592(2024)
Cell line databases/resources	hPSCreg; YUCMi022-A
Biological sample resources	BioSamples; SAMEA115112794
Entry history
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1