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• W1967753406 abstract "Genetic mutations in ion channel genes that are associated with cardiac arrhythmias have been identified over the past several decades. However, little is known about the pathophysiological processes. An important limitation has been the difficulty of using human cardiomyocytes to study arrhythmias and identify drugs. To circumvent this issue, we have developed a method using human-induced pluripotent stem cells to generate cardiomyocytes from individuals with Timothy syndrome (TS), a genetic disorder characterized by QT prolongation, ventricular tachycardia, and autism. The TS ventricular-like cardiomyocytes exhibit deficits in contraction, electrical signaling, and calcium handling, as revealed by live cell imaging and electrophysiological studies. We tested candidate drugs in TS cardiomyocytes and found that roscovitine could successfully rescue these cellular phenotypes. The use of a human cellular model of cardiac arrhythmias provides a useful new platform not only to study disease mechanisms but also to develop new therapies to treat cardiac arrhythmias." @default.
• W1967753406 created "2016-06-24" @default.
• W1967753406 creator A5010521304 @default.
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• W1967753406 date "2013-01-09" @default.
• W1967753406 modified "2023-10-16" @default.
• W1967753406 title "Modeling Timothy Syndrome with iPS Cells" @default.
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• W1967753406 doi "https://doi.org/10.1007/s12265-012-9444-x" @default.
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