Establishment of a human-induced pluripotent stem cell line, KSCBi014-A, from a long QT syndrome type 2 patient harboring a KCNH2 mutation

Youngsun Lee; Soo Kyung Koo; Jung-Hyun Kim

doi:10.1016/j.scr.2021.102570

Establishment of a human-induced pluripotent stem cell line, KSCBi014-A, from a long QT syndrome type 2 patient harboring a KCNH2 mutation

Stem Cell Res. 2021 Dec:57:102570. doi: 10.1016/j.scr.2021.102570. Epub 2021 Oct 13.

Authors

Youngsun Lee¹, Soo Kyung Koo¹, Jung-Hyun Kim²

Affiliations

¹ Division of Intractable Diseases Research, Department of Chronic Diseases Convergence Research, Korea National Institute of Health, Osong Health Technology, Administration Complex 202, South Korea.
² Division of Intractable Diseases Research, Department of Chronic Diseases Convergence Research, Korea National Institute of Health, Osong Health Technology, Administration Complex 202, South Korea. Electronic address: [email protected].

PMID: 34678663
DOI: 10.1016/j.scr.2021.102570

Abstract

Long QT syndrome type 2 (LQT2) is a heart disorder caused by a loss-of-function mutation in the KCNH2 gene that is an essential factor in cardiac repolarization and affects the heart rate. This study has generated a human-induced stem cell line (KSCBi014-A) carrying the KCNH2 (c.453delC) mutation from an LQT2 patient. The non-integrative Sendai virus-mediated induced pluripotent stem cell (iPSC) reprogramming method was used for iPSC line generation. The KSCBi014-A line maintained stem cell-like morphology, normal karyotype, and pluripotency, and could differentiate into three germ layers in vitro.