Deciphering the pathogenic role of a variant with uncertain significance for short QT and Brugada syndromes using gene-edited human-induced pluripotent stem cell-derived cardiomyocytes and preclinical drug screening

Clin Transl Med. 2021 Dec;11(12):e646. doi: 10.1002/ctm2.646.

Ibrahim El-Battrawy^{1

2

3}, Huan Lan⁴, Lukas Cyganek^{5

2}, Lasse Maywald^{1

2}, Rujia Zhong¹, Feng Zhang¹, Qiang Xu¹, Jihyun Lee⁶, Eliane Duperrex⁶, Andreas Hierlemann⁶, Ardan M Saguner⁷, Firat Duru⁷, Boldizsar Kovacs⁷, Mengying Huang¹, Zhenxing Liao¹, Sebastian Albers^{1

2}, Jonas Müller^{1

2}, Hendrik Dinkel^{1

2}, Lena Rose¹, Alyssa Hohn¹, Zhen Yang¹, Lin Qiao¹, Yingrui Li¹, Siegfried Lang^{1

2}, Mandy Kleinsorge^{5

7}, Andreas Mügge³, Assem Aweimer³, Xuehui Fan¹, Sebastian Diecke⁸, Ibrahim Akin^{1

2}, Guang Li⁴, Xiaobo Zhou^{1

4

2}

¹ First Department of Medicine, Faculty of Medicine, University Medical Centre Mannheim (UMM), University of Heidelberg, Mannheim, Germany.
² DZHK (German Center for Cardiovascular Research), Partner Site Heidelberg-Mannheim and Göttingen, Mannheim, Germany.
³ Department of Cardiology and Angiology, Bergmannsheil Bochum, Medical Clinic II, Ruhr University, Bochum, Germany.
⁴ Key Laboratory of Medical Electrophysiology of Ministry of Education and Medical Electrophysiological Key Laboratory of Sichuan Province, Institute of Cardiovascular Research, Southwest Medical University, Luzhou, China.
⁵ Stem Cell Unit, Clinic for Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany.
⁶ Department of Biosystems Science and Engineering, Bioengineering Laboratory, Basel, Switzerland.
⁷ Department of Cardiology, Electrophysiology Division, University Heart Center Zurich, Zurich, Switzerland.
⁸ Max Delbrück Center for Molecular Medicine, Berlin, Germany.

No abstract available

Keywords: brugada syndrome; cardiac death; channelopathy; short QT syndrome.

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