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

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, Lisa J. Edelmann, Betty Chang, Avinash Waghray, Jie Su, Sherly Pardo, Klaske D. Lichtenbelt, Marco Tartaglia, Bruce D. Gelb and Ihor R. Lemischka ()
Additional contact information
Xonia Carvajal-Vergara: Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA
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
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
Ihor R. Lemischka: Black Family Stem Cell Institute, Mount Sinai School of Medicine, New York, New York 10029, USA

Nature, 2010, vol. 465, issue 7299, 808-812

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.

Date: 2010
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DOI: 10.1038/nature09005

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