Sandra Ratnavadivel, Joline Dammeier, Anna Gaertner, Marcelo A Szymanski de Toledo, Martin Zenke, Jan Gummert, Torsten Bloch Rasmussen, Nora Klinke, Kai Jürgens, Heiko Meyer, Achim Paululat, Hendrik Milting
TMEM43 (LUMA) is a ubiquitously expressed protein with unknown function. The protein is phylogenetically highly conserved and also found in Drosophila melanogaster (Klinke et al., 2022). TMEM43-p.S358L is a rare, fully penetrant mutation that leads to arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). To understand the function of the ARVC5-associated mutation it is first important to understand the function of the TMEM43 protein. Therefore, a TMEM43 knockout induced pluripotent stem cell (iPSC) line was generated using the CRISPR/Cas9 genome editing system...
February 17, 2024: Stem Cell Research