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Investigation of Rett syndrome using pluripotent stem cells

Authors

  • Rana Dajani,

    1. Department of Genetics, Yale Stem Cell Center, Yale School of Medicine, 10 Amistad 201B, New Haven, Connecticut
    2. Department of Biology and Biotechnology, Hashemite University, Zarqa, Jordan
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  • Sung-Eun Koo,

    1. Department of Cell Biology and Genetics, University of British Columbia, Vancouver BC, Canada
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  • Gareth J. Sullivan,

    Corresponding author
    • Faculty of Medicine, Stem Cell Epigenetics Laboratory, Institute of Basic Medical Sciences, University of Oslo, Norwegian Center for Stem Cell Research, Blindern, 0317 Oslo PO Box 1112, Norway
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  • In-Hyun Park

    1. Department of Genetics, Yale Stem Cell Center, Yale School of Medicine, 10 Amistad 201B, New Haven, Connecticut
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Correspondence to: Gareth J. Sullivan and In-Hyun Park, Department of Genetics, Yale Stem Cell Center, Yale School of Medicine, 10 Amistad, 201B, New Haven, CT 06520.

E-mail: inhyun.park@yale.edu, gareth.sullivan@medisin.uio.no

ABSTRACT

Rett syndrome (RTT) is one of most prevalent female neurodevelopmental disorders. De novo mutations in X-linked MECP2 are mostly responsible for RTT. Since the identification of MeCP2 as the underlying cause of RTT, murine models have contributed to understanding the pathophysiology of RTT and function of MeCP2. Reprogramming is a procedure to produce induced pluripotent stem cells (iPSCs) by overexpression of four transcription factors. iPSCs obtain similar features as embryonic stem cells and are capable of self-renewing and differentiating into cells of all three layers. iPSCs have been utilized in modeling human diseases in vitro. Neurons differentiated from RTT-iPSCs showed the recapitulation of RTT phenotypes. Despite the early success, genetic and epigenetic instability upon reprogramming and ensuing maintenance of iPSCs raise concerns in using RTT-iPSCs as an accurate in vitro model. Here, we update the current iPSC-based RTT modeling, and its concerns and challenges. J. Cell. Biochem. 114: 2446–2453, 2013. © 2013 Wiley Periodicals, Inc.

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