Universität Rostock, 2019
Abstract: Niemann-Pick type C1 (NPC1) disease is a rare autosomal recessive lysosomal lipidosis, characterized by an accumulation of cholesterol in the lysosomes. The aim of the work was to develop a human neural in vitro cell model system for NPC1. For this purpose NPC1 patient-specific fibroblasts were reprogrammed into patient-specific induced pluirpotent stem cells (IPSCs). These IPSCs were differentiated into neurons and glial cells and examined with regard to the expression of pathophysiological features of NPC1, to evidence the feasibility of the cells as a NPC1 in vitro model system.
postdoctoral thesis free access