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Mutated Human Embryonic Stem Cells for the Study of Human Genetic Disorders

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Human Embryonic Stem Cells Handbook

Part of the book series: Methods in Molecular Biology ((MIMB,volume 873))

Abstract

Human embryonic stem cells (HESCs) are of great interest in biology and medicine due to their ability to grow indefinitely in culture while maintaining their ability to differentiate into all different cell types in the human body. In addition, HESCs can be used for better understanding the key developmental processes and can, therefore, serve for studying genetic disorders for which no good research model exists. Preimplantation genetic diagnosis of in vitro derived embryos results in affected-spare blastocysts with specific known inherited mutations.These affected blastocysts can be used for the derivation of disease-bearing HESCs, which would serve for studying the molecular and pathophysiological mechanisms underlying the genetic disease for which they were diagnosed. This chapter describes the methods to derive HESCs carrying mutations for inherited disorders.

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Acknowledgments

The authors thank the laboratory technicians and embryologists of the Racine IVF lab, Tamar Shwartz, Ariela Carmon, Tanya Cohen, Nava Mei-Raz, Veronica Gold, and Sagit Peleg, for their skillful assistance. We thank Sigalit Siso (TASMC) for the graphics and Sheila Ben-Yehudah for technical assistance.

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Authors and Affiliations

  1. Racine IVF Unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center Affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel

    Ahmi Ben-Yehudah, Mira Malcov & Tsvia Frumkin

  2. Racine IVF Unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center Affi liated to the Sackler Faculty of Medicine, Department of Cell and Developmental Biology, Tel Aviv University, Tel-Aviv, Israel

    Dalit Ben-Yosef

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  1. Ahmi Ben-Yehudah
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  2. Mira Malcov
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  4. Dalit Ben-Yosef
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Correspondence to Dalit Ben-Yosef .

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  1. Sprott Centre for Stem Cell Research, Regenerative Medicine Program, Ottawa Hospital Research Institute, Smyth Road 501, Ottawa, K1Y 8L6, Canada

    Kursad Turksen

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© 2012 Springer Science+Business Media, LLC

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Ben-Yehudah, A., Malcov, M., Frumkin, T., Ben-Yosef, D. (2012). Mutated Human Embryonic Stem Cells for the Study of Human Genetic Disorders. In: Turksen, K. (eds) Human Embryonic Stem Cells Handbook. Methods in Molecular Biology, vol 873. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-61779-794-1_11

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  • DOI: https://doi.org/10.1007/978-1-61779-794-1_11

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  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-61779-793-4

  • Online ISBN: 978-1-61779-794-1

  • eBook Packages: Springer Protocols

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