Cardiomyogenic differentiation of an induced pluripotent stem cell line carrying PRKAG2 R302Q mutation.

This article discusses the generation of an induced pluripotent stem cell (iPSC) line carrying a specific genetic mutation associated with cardiac syndrome. The mutation, known as PRKAG2 R302Q, is responsible for a rare autosomal dominant genetic heart disease characterized by glycogen accumulation and ventricular septal hypertrophy. The study successfully differentiated the iPSCs into cardiomyocytes that exhibited beating behavior and expressed specific cardiac genes. This research provides a valuable model for understanding the underlying mechanisms of the disease and exploring potential therapeutic strategies. The study was conducted by Yi Gu, Xiaocheng Lu, Zuoren Yu, Jian Yao, and Hongzhuan Sheng. [Extracted from the article]