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Media type:
E-Book;
Thesis
Title:
An integrated approach using patient-specific induced pluripotent stem cells and protein biochemistry to study Vici syndrome associated cardiomyopathy
University thesis:
Dissertation, Georg-August-Universität Göttingen, 2016
Footnote:
Description:
Vici syndrome is a rare autosomal recessive inherited multisystem disorder caused by mutations in EPG5. More than 80% of the patients with Vici syndrome suffer from cardiomyopathy. In this study, the induced pluripotent stem cell (iPSC) system was applied to model the disease, investigate the cardiac phenotype and to elucidate the underlying molecular mechanism of autophagy in cardiomyocytes derived from iPSCs. HiPSCs from the patient with Vici syndrome (Vici-iPSCs) carrying a homologous intronic mutation of EPG5 (c.4952+1G>A) were generated. These Vici-iPSC lines were pluripotent and could...