Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

@inproceedings{Cheung2011IsolationOM,
  title={Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation},
  author={Aaron Cheung and Lindsay Horvath and Darya A Grafodatskaya and Peter Pasceri and Rosanna A Weksberg and Akitsu Hotta and Laura Carrel and James Ellis},
  booktitle={Human molecular genetics},
  year={2011}
}
Rett syndrome (RTT) is a neurodevelopmental autism spectrum disorder that affects girls due primarily to mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). The majority of RTT patients carry missense and nonsense mutations leading to a hypomorphic MECP2, while null mutations leading to the complete absence of a functional protein are rare. MECP2 is an X-linked gene subject to random X-chromosome inactivation resulting in mosaic expression of mutant MECP2. The lack of human… CONTINUE READING

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