Modelling the long QT syndrome with induced pluripotent stem cells

@article{Itzhaki2011ModellingTL,
  title={Modelling the long QT syndrome with induced pluripotent stem cells},
  author={Ilanit Itzhaki and L. Maizels and I. Huber and Limor Zwi-Dantsis and O. Caspi and Aaron Winterstern and Oren Feldman and A. Gepstein and G. Arbel and H. Hammerman and M. Boulos and L. Gepstein},
  journal={Nature},
  year={2011},
  volume={471},
  pages={225-229}
}
The ability to generate patient-specific human induced pluripotent stem cells (iPSCs) offers a new paradigm for modelling human disease and for individualizing drug testing. Congenital long QT syndrome (LQTS) is a familial arrhythmogenic syndrome characterized by abnormal ion channel function and sudden cardiac death. Here we report the development of a patient/disease-specific human iPSC line from a patient with type-2 LQTS (which is due to the A614V missense mutation in the KCNH2 gene). The… Expand
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