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Modeling FXS: Human Pluripotent Stem Cells and In Vitro Neural Differentiation

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Book cover Fragile-X Syndrome

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1942))

Abstract

In fragile X syndrome (FXS) embryos FMRP is widely expressed during early stages of embryogenesis however it is inactivated by the end of the first trimester. In the same manner, human embryonic stem cell (hESC) lines from FXS blastocysts, bearing the full CGG expansion mutation, express FMRP in their pluripotent stage and in neurons derived following in vitro differentiation, FMR1 is completely silenced. Therefore, in vitro neural differentiation of FX-hESC lines serves as a uniquely valuable model system to study the developmental mechanisms underlying FXS, together with the proper differentiation protocol to mimic the neurodevelopmental process occurs in vivo.

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Authors and Affiliations

  1. Wolfe PGD Stem Cell Lab, Racine IVF Unit at Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel

    Liron Kuznitsov-Yanovsky

  2. Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    Liron Kuznitsov-Yanovsky

  3. Wolfe PGD Stem Cell Lab, Racine IVF Unit at Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel

    Yoav Mayshar & Dalit Ben-Yosef

Authors
  1. Liron Kuznitsov-Yanovsky
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  2. Yoav Mayshar
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  3. Dalit Ben-Yosef
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Corresponding author

Correspondence to Dalit Ben-Yosef .

Editor information

Editors and Affiliations

  1. Wolfe PGD Stem Cell Lab, Racine IVF Unit at Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel

    Dalit Ben-Yosef

  2. Wolfe PGD Stem Cell Lab, Racine IVF Unit at Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel

    Yoav Mayshar

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Kuznitsov-Yanovsky, L., Mayshar, Y., Ben-Yosef, D. (2019). Modeling FXS: Human Pluripotent Stem Cells and In Vitro Neural Differentiation. In: Ben-Yosef, D., Mayshar, Y. (eds) Fragile-X Syndrome. Methods in Molecular Biology, vol 1942. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-9080-1_8

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  • DOI: https://doi.org/10.1007/978-1-4939-9080-1_8

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-9079-5

  • Online ISBN: 978-1-4939-9080-1

  • eBook Packages: Springer Protocols

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