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TY - JOUR AU - Yazawa, Masayuki AU - Hsueh, Brian AU - Jia, Xiaolin AU - Pasca, Anca M. AU - Bernstein, Jonathan A. AU - Hallmayer, Joachim AU - Dolmetsch, Ricardo E. PY - 2011 DA - 2011/03/01 TI - Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome JO - Nature SP - 230 EP - 234 VL - 471 IS - 7337 AB - It is difficult to model cardiac arrhythmias in mice and other genetically tractable animals because the mechanisms of cardiomyocyte contraction in these animals are unlike those in humans. A new model for studying these conditions is reported, in the form of cardiomyocytes produced from induced pluripotent stem cells derived by reprogramming fibroblasts from two patients with Timothy syndrome, a disorder characterized by autism, immune deficiency and cardiac arrhythmias. The abnormal electrical and calcium-signalling properties of these patients' cells were restored by a drug, roscovitine, known to increase voltage-dependent inactivation of CaV1.2, a calcium channel that is defective in patients with Timothy syndrome. SN - 1476-4687 UR - https://doi.org/10.1038/nature09855 DO - 10.1038/nature09855 ID - Yazawa2011 ER -