Stem cell model of spinal muscular atrophy.

Human embryonic stem cells provide a useful source of material for studying basic human development and various disease states. However, ethical issues concerning their procurement limit their acceptance and possible clinical applicability. Recent advances in stem cell technology have provided an alternative source of pluripotent stem cells that does not require the use of an embryo. This review addresses the generation of induced pluripotent stem cells from skin fibroblasts taken from various patient populations, with a specific focus on the pediatric disorder spinal muscular atrophy. These patient-derived cells may help researchers devise more appropriate therapies through a greater understanding of the molecular mechanisms that underlie neuron dysfunction and death in a variety of diseases. Furthermore, they provide an ideal platform for small-molecule screening and subsequent drug development.