In vitro Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells | Zendy

Azra Fatima | Zendy; Guoxing Xu | Zendy; Kaifeng Shao | Zendy; Symeon Papadopoulos | Zendy; Martin Lehmann | Zendy; Juan José ArnáizCot | Zendy; Angelo O. Rosa | Zendy; Filomain Nguemo | Zendy; Matthias Matzkies | Zendy; Sven Dittmann | Zendy; Susannah L. Stone | Zendy; Matthias Linke | Zendy; Ulrich Zechner | Zendy; Vera Beyer | Zendy; Hans Christian Hennies | Zendy; Stephan Rosenkranz | Zendy; Baerbel Klauke | Zendy; Abdul Shokor Parwani | Zendy; Wilhelm Haverkamp | Zendy; Gabriele Pfitzer | Zendy; Martin Farr | Zendy; Lars Cleemann | Zendy; Martin Morad | Zendy; Hendrik Milting | Zendy; Juergen Hescheler | Zendy; Tomo Šarić | Zendy

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<i>In vitro</i> Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells

Author(s) -

Azra Fatima,

Guoxing Xu,

Kaifeng Shao,

Symeon Papadopoulos,

Martin Lehmann,

Juan José ArnáizCot,

Angelo O. Rosa,

Filomain Nguemo,

Matthias Matzkies,

Sven Dittmann,

Susannah L. Stone,

Matthias Linke,

Ulrich Zechner,

Vera Beyer,

Hans Christian Hennies,

Stephan Rosenkranz,

Baerbel Klauke,

Abdul Shokor Parwani,

Wilhelm Haverkamp,

Gabriele Pfitzer,

Martin Farr,

Lars Cleemann,

Martin Morad,

Hendrik Milting,

Juergen Hescheler,

Tomo Šarić

Publication year - 2011

Publication title -

cellular physiology and biochemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.486

H-Index - 87

eISSN - 1421-9778

pISSN - 1015-8987

DOI - 10.1159/000335753

Subject(s) - ryanodine receptor 2 , catecholaminergic polymorphic ventricular tachycardia , induced pluripotent stem cell , ryanodine receptor , biology , microbiology and biotechnology , afterdepolarization , medicine , endocrinology , repolarization , neuroscience , genetics , electrophysiology , embryonic stem cell , endoplasmic reticulum , gene

Induced pluripotent stem (iPS) cells generated from accessible adult cells of patients with genetic diseases open unprecedented opportunities for exploring the pathophysiology of human diseases in vitro. Catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) is an inherited cardiac disorder that is caused by mutations in the cardiac ryanodine receptor type 2 gene (RYR2) and is characterized by stress-induced ventricular arrhythmia that can lead to sudden cardiac death in young individuals. The aim of this study was to generate iPS cells from a patient with CPVT1 and determine whether iPS cell-derived cardiomyocytes carrying patient specific RYR2 mutation recapitulate the disease phenotype in vitro.

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