ABSTRACT
Induced pluripotent stem cells (iPSCs) can be derived from small and readily available tissue samples, most often skin or blood samples. But of the various diseases that have been modeled, one class of inherited diseases has been a particular focus of iPSC-based research: lysosomal storage diseases (LSDs). LSDs are a class of approximately 50 metabolic disorders caused by inherited deficiencies in various lysosomal proteins. The majority of LSDs are the result of mutations in metabolic enzymes active in the lysosomal lumen, although several LSDs are caused by defects in lysosomal transport or vesicular trafficking. Gaucher Disease (GD) was among the first diseases for which iPSCs were generated. Not long after the initial announcement of the development of human iPSCs, Park et al. Several groups have also further characterized GD iPSC-derived dopaminergic neurons in attempts to link decreased GCase activity with the observed predisposition toward Parkinson disease and related disorders.
