Using iPS cell-derived neurons to uncover cellular phenotypes associated with Timothy Syndrome

  title={Using iPS cell-derived neurons to uncover cellular phenotypes associated with Timothy Syndrome},
  author={Sergiu P. Pașca and Thomas Portmann and Irina Voineagu and Masayuki Yazawa and Oleksandr Shcheglovitov and Anca M. Pașca and Branden J. Cord and Theo D. Palmer and Sachiko Chikahisa and Nishino Seiji and J A Bernstein and Joachim F. Hallmayer and Daniel H. Geschwind and Ricardo E Dolmetsch},
  booktitle={Nature Medicine},
Monogenic neurodevelopmental disorders provide key insights into the pathogenesis of disease and help us understand how specific genes control the development of the human brain. Timothy syndrome is caused by a missense mutation in the L-type calcium channel Cav1.2 that is associated with developmental delay and autism. We generated cortical neuronal precursor cells and neurons from induced pluripotent stem cells derived from individuals with Timothy syndrome. Cells from these individuals have… CONTINUE READING
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Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome

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