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Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

Author

Listed:
  • Xonia Carvajal-Vergara

    (Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA
    Centro Nacional de Investigaciones Cardiovasculares)

  • Ana Sevilla

    (Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Sunita L. D’Souza

    (Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Yen-Sin Ang

    (Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Christoph Schaniel

    (Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Dung-Fang Lee

    (Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Lei Yang

    (Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Aaron D. Kaplan

    (Cardiovascular Institute, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Eric D. Adler

    (Cardiovascular Institute, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Roye Rozov

    (Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • YongChao Ge

    (Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Ninette Cohen

    (Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Lisa J. Edelmann

    (Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Betty Chang

    (Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Avinash Waghray

    (Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Jie Su

    (Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Sherly Pardo

    (Mount Sinai School of Medicine, New York, New York 10029, USA
    Child Health and Development Institute, Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Klaske D. Lichtenbelt

    (University Medical Center Utrecht)

  • Marco Tartaglia

    (Oncologia e Medicina Molecolare, Istituto Superiore di Sanità)

  • Bruce D. Gelb

    (Mount Sinai School of Medicine, New York, New York 10029, USA
    Child Health and Development Institute, Mount Sinai School of Medicine, New York, New York 10029, USA
    Mount Sinai School of Medicine, New York, New York 10029, USA)

  • Ihor R. Lemischka

    (Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA)

Abstract

iPS cell model of LEOPARD syndrome Patient-specific iPS (induced pluripotent stem) cells are seen as key to modelling genetic disorders and developing new treatments for them. Now iPS cell lines have been generated by nuclear reprogramming from patients with LEOPARD syndrome, a rare developmental disorder characterized by skin lesions, heart abnormalities and deafness. Cardiomyocytes derived from the resulting LEOPARD iPS cells have hypertrophic properties resembling those typical of the disease — cardiac hypertrophy occurs in 90% of children with the syndrome. The reprogrammed cells feature extensive alterations in various signal transduction pathway components, including RAS–MAPK, some previously described in association with cardiac hypertrophy. Using these cell lines, together with robust differentiation protocols, it may be possible to identify compounds that reverse diseased cellular phenotypes.

Suggested Citation

  • Xonia Carvajal-Vergara & Ana Sevilla & Sunita L. D’Souza & Yen-Sin Ang & Christoph Schaniel & Dung-Fang Lee & Lei Yang & Aaron D. Kaplan & Eric D. Adler & Roye Rozov & YongChao Ge & Ninette Cohen & Li, 2010. "Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome," Nature, Nature, vol. 465(7299), pages 808-812, June.
    • Handle: RePEc:nat:nature:v:465:y:2010:i:7299:d:10.1038_nature09005
    DOI: 10.1038/nature09005
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    Cited by:

    1. Timothy J Cashman & Rebecca Josowitz & Bryce V Johnson & Bruce D Gelb & Kevin D Costa, 2016. "Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy," PLOS ONE, Public Library of Science, vol. 11(1), pages 1-17, January.

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