Mutations in the gene, which encodes the intermediate filament desmin, lead to desminopathy, a rare disease characterized by skeletal muscle weakness and different forms of cardiomyopathies associated with cardiac conduction defects and arrhythmias. We generated human induced pluripotent stem cells (hiPSC) from a patient carrying the DES p.R406W mutation, and employed CRISPR/Cas9 to rectify the mutation in the patient's hiPSC line and introduced the mutation in an hiPSC line from a control individual unrelated to the patient. These hiPSC lines represent useful models for delving into the mechanisms of desminopathy and developing new therapeutic approaches.

中文翻译：

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生成携带 DES p.R406W 突变的患者特异性诱导多能干细胞系、同基因对照和 DES p.R406W 敲入系

编码中间丝结蛋白的基因突变会导致结蛋白病，这是一种罕见的疾病，其特征是骨骼肌无力以及与心脏传导缺陷和心律失常相关的不同形式的心肌病。我们从携带 DES p.R406W 突变的患者中产生了人类诱导多能干细胞 (hiPSC)，并使用 CRISPR/Cas9 纠正患者 hiPSC 系中的突变，并将突变引入来自与该患者无关的对照个体的 hiPSC 系中。病人。这些 hiPSC 系代表了深入研究结膜病机制和开发新治疗方法的有用模型。