Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg.
Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg.
Stem Cell Res. 2023 Jun;69:103085. doi: 10.1016/j.scr.2023.103085. Epub 2023 Mar 25.
Primary skin fibroblasts from two Parkinson's disease (PD) patients carrying distinct heterozygous mutations in the RHOT1 gene encoding Miro1, namely c.1290A > G (Miro1 p.T351A) and c.2067A > G (Miro1 p.T610A), were converted into induced pluripotent stem cells (iPSCs) by episomal reprogramming. The corresponding isogenic gene-corrected lines have been generated using CRISPR/Cas9 technology. Here, we provide a comprehensive characterization and quality assurance of both isogenic pairs, which will be used to study Miro1-related molecular mechanisms underlying neurodegeneration in iPSC-derived neuronal models (e.g., midbrain dopaminergic neurons and astrocytes).
两位帕金森病(PD)患者的皮肤成纤维细胞分别携带 RHOT1 基因中的杂合突变,即 c.1290A>G(Miro1 p.T351A)和 c.2067A>G(Miro1 p.T610A),通过外显子重编程转化为诱导多能干细胞(iPSC)。使用 CRISPR/Cas9 技术生成了相应的同源基因校正系。在这里,我们对这两对同源基因进行了全面的特征描述和质量保证,这将用于研究 iPSC 衍生的神经元模型(例如中脑多巴胺能神经元和星形胶质细胞)中与 Miro1 相关的神经退行性变的分子机制。