Work

Establishment of two human induced pluripotent stem cell lines from familial long QT syndrome type 1 patients carrying KCNQ1 mutation

Year: 2024

Type: article

Abstract: Long QT syndrome type 1 (LQT1) is a rare heart disorder caused by a loss-of-function mutation in the KCNQ1 gene that causes loss of Kv7.1 channel function, which can lead to Palpitations, Syncope, and Sudden cardiac arrest. We derived induced pluripotent stem cells from PBMC of LQT1 patients carrying a pathogenic variant (c.734G>A; p.Gly245Glu). The non-integrative Sendai virus-mediated iPSC reprogramming method was used for iPSC line generation. These iPSC cell lines exhibit stem cell pluripotency, differentiation capability, and cell morphology, resulting in a reliable cell source to study the effects of KCNQ1 mutation in disease-specific cell types.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2024.103571

Authors: Dasom Mun, Gyeongseo Yoo, Malgeum Park, Ji-Young Kang, Nuri Yun, Boyoung Joung

Institutions: Yonsei University, Yonsei University Health System

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,320