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Using Human Induced Pluripotent Stem Cells to Model Skeletal Diseases

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Patient-Specific Induced Pluripotent Stem Cell Models

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1353))

Abstract

Musculoskeletal disorders affecting the bones and joints are major health problems among children and adults. Major challenges such as the genetic origins or poor diagnostics of severe skeletal disease hinder our understanding of human skeletal diseases. The recent advent of human induced pluripotent stem cells (human iPS cells) provides an unparalleled opportunity to create human-specific models of human skeletal diseases. iPS cells have the ability to self-renew, allowing us to obtain large amounts of starting material, and have the potential to differentiate into any cell types in the body. In addition, they can carry one or more mutations responsible for the disease of interest or be genetically corrected to create isogenic controls. Our work has focused on modeling rare musculoskeletal disorders including fibrodysplasia ossificans progressive (FOP), a congenital disease of increased heterotopic ossification. In this review, we will discuss our experiences and protocols differentiating human iPS cells toward the osteogenic lineage and their application to model skeletal diseases. A number of critical challenges and exciting new approaches are also discussed, which will allow the skeletal biology field to harness the potential of human iPS cells as a critical model system for understanding diseases of abnormal skeletal formation and bone regeneration.

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Authors and Affiliations

  1. Division of Endocrinology and Metabolism, Department of Medicine, Institute for Human Genetics, University of California, 513 Parnassus Ave., HSE901G, San Francisco, CA, 94143-0794, USA

    Emilie Barruet & Edward C. Hsiao M.D., Ph.D.

Authors
  1. Emilie Barruet
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  2. Edward C. Hsiao M.D., Ph.D.
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Correspondence to Edward C. Hsiao M.D., Ph.D. .

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Editors and Affiliations

  1. Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada

    Andras Nagy

  2. Ottawa Hospital Research Institute, Ottawa, Ontario, Canada

    Kursad Turksen

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© 2014 Springer Science+Business Media New York

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Barruet, E., Hsiao, E.C. (2014). Using Human Induced Pluripotent Stem Cells to Model Skeletal Diseases. In: Nagy, A., Turksen, K. (eds) Patient-Specific Induced Pluripotent Stem Cell Models. Methods in Molecular Biology, vol 1353. Humana Press, New York, NY. https://doi.org/10.1007/7651_2014_171

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  • DOI: https://doi.org/10.1007/7651_2014_171

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-3033-3

  • Online ISBN: 978-1-4939-3034-0

  • eBook Packages: Springer Protocols

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