Patient-specific induced pluripotent stem-cell models for long-QT syndrome.

@article{Moretti2010PatientspecificIP,
  title={Patient-specific induced pluripotent stem-cell models for long-QT syndrome.},
  author={A. Moretti and M. Bellin and A. Welling and C. Jung and J. Lam and Lorenz Bott-Fl{\"u}gel and T. Dorn and A. Goedel and C. H{\"o}hnke and F. Hofmann and M. Seyfarth and D. Sinnecker and A. Sch{\"o}mig and K. Laugwitz},
  journal={The New England journal of medicine},
  year={2010},
  volume={363 15},
  pages={
          1397-409
        }
}
BACKGROUND Long-QT syndromes are heritable diseases associated with prolongation of the QT interval on an electrocardiogram and a high risk of sudden cardiac death due to ventricular tachyarrhythmia. In long-QT syndrome type 1, mutations occur in the KCNQ1 gene, which encodes the repolarizing potassium channel mediating the delayed rectifier I(Ks) current. METHODS We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the… Expand
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TLDR
It is suggested that the iPS cell-derived CM can serve as a model system for studying the pathophysiology of LQTS-3, toxicity testing and design of novel therapeutics, and that the effect of channel mutation in the diseased CM is demonstrated in vitro. Expand
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Individuals with congenital or acquired prolongation of the QT interval, or long QT syndrome (LQTS), are at risk of life-threatening ventricular arrhythmia. LQTS is commonly genetic in origin but canExpand
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TLDR
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TLDR
This concise review presents how the hiPSC technology has been used to model three main forms of LQTS, and introduces some of the most recent challenges that must be tackled in the upcoming years to successfully shifthiPSC-CMs from powerful in vitro disease modelling tools into assets to improve risk stratification and clinical decision-making. Expand
Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation
TLDR
It is demonstrated that patient LQT2–hiPSC cardiomyocytes respond appropriately to clinically relevant pharmacology and will be a valuable human in vitro model for testing experimental drug combinations. Expand
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