Year: 2017
Type: dissertation
Abstract: Patient- specific hiPSCs were generated from fibroblasts carrying a CALM1 mutation and differentiated into cardiomyocytes in vitro. A LQTS disease phenotype on cardiomyocytes was confirmed electrophysiologically, displayed as AP prolongation and incomplete CDI of Cav1.2 channels. Correction of LQTS- causing CALM1 mutations and knock- out of the CALM1 gene were attempted in patients’ hiPSCs using the CRISPR/ Cas9 technology. Further, a MEIS1 gene knock- out by CRISPR/ Cas9 was performed in a control hiPSC line. The full MEIS1 knock- out was confirmed on transcriptional and protein level and effects on cardiogenesis were assessed in vitro.
Author: Lisa Dreizehnter
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2743237812