Induced Pluripotent Stem Cell-Derived Cardiomyocytes with <i>SCN5A</i> R1623Q Mutation Associated with Severe Long QT Syndrome in Fetuses and Neonates Recapitulates Pathophysiological Phenotypes

Induced Pluripotent Stem Cell-Derived Cardiomyocytes with <i>SCN5A</i> R1623Q Mutation Associated with Severe Long QT Syndrome in Fetuses and Neonates Recapitulates Pathophysiological Phenotypes

The <i>SCN5A</i> R1623Q mutation is one of the most common genetic variants associated with severe congenital long QT syndrome 3 (LQT3) in fetal and neonatal patients. To investigate the properties of the R1623Q mutation, we established an induced pluripotent stem cell (iPSC) cardiomyocy...

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Bibliographic Details
Main Authors: Emiko Hayama, Yoshiyuki Furutani, Nanako Kawaguchi, Akiko Seki, Yoji Nagashima, Keisuke Okita, Daiji Takeuchi, Rumiko Matsuoka, Kei Inai, Nobuhisa Hagiwara, Toshio Nakanishi
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:Biology
Subjects:
<i>SCN5A</i>
Nav1.5
mutation
R1623Q
induced pluripotent stem cells
cardiomyocyte
Online Access:https://www.mdpi.com/2079-7737/10/10/1062

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