Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, Germany.
Institute for Biomedical Engineering - Cell Biology, RWTH Aachen University Medical School, D-52074 Aachen, Pauwelstrasse 30, Germany; Helmholtz Institute for Biomedical Engineering, RWTH Aachen University, D-52074 Aachen, Pauwelstrasse 20, Germany; Department of Hematology, Oncology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University Hospital, Aachen, Germany; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Aachen, Germany.
Stem Cell Res. 2024 Apr;76:103354. doi: 10.1016/j.scr.2024.103354. Epub 2024 Feb 17.
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. The resulting cell line had a deficiency of TMEM43 and showed normal morphology and a stable karyotype. The colonies were positive for pluripotency markers and could be differentiated into the three germ layers.
TMEM43（LUMA）是一种广泛表达的蛋白，其功能未知。该蛋白在系统发育上高度保守，也存在于黑腹果蝇（Drosophila melanogaster）中（Klinke 等人，2022 年）。TMEM43-p.S358L 是一种罕见的、完全外显的突变，导致致心律失常性右室心肌病 5 型（ARVC5）。为了了解与 ARVC5 相关的突变的功能，首先了解 TMEM43 蛋白的功能是很重要的。因此，使用 CRISPR/Cas9 基因组编辑系统生成了 TMEM43 敲除诱导多能干细胞（iPSC）系。所得细胞系 TMEM43 缺失，形态正常，核型稳定。集落为多能性标志物阳性，并可分化为三个胚层。
