Beschreibung:
The induced pluripotent stem cell (iPSCs) based cardiomyocyte system (iPSC-CMs) is a powerful tool to serve as a human in vitro model for cardiac diseases. Dilated cardiomyopathy (DCM) and left ventricular non-compaction cardiomyopathy (LVNC) are diseases resulting in reduced and thin (DCM) or trabeculated (LVNC) muscle tissue. This project aims to analyze the influence of genetic mutations on aberrant splicing events leading to the development of DCM and LVNC. For this purpose, two families were recruited: 1) A LVNC family with a missense mutation in a conserved region of the splicing fact...