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

ABSTRACT: The generation of reprogrammed induced pluripotent stem cells (iPSCs) from patients with defined genetic disorders holds the promise of increased understanding of the aetiologies of complex diseases and may also facilitate the development of novel therapeutic interventions. We have generated iPSCs from patients with LEOPARD syndrome (an acronym formed from its main features; that is, lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness), an autosomal-dominant developmental disorder belonging to a relatively prevalent class of inherited RAS-mitogen-activated protein kinase signalling diseases, which also includes Noonan syndrome, with pleomorphic effects on several tissues and organ systems. Th

SUBMITTER: Carvajal-Vergara X 

PROVIDER: S-EPMC2885001 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature