Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, Italy.
Centro Cardiologico Monzino-IRCCS, Unit of Vascular Biology and Regenerative Medicine, Milan, Italy.
Stem Cell Res. 2020 May;45:101819. doi: 10.1016/j.scr.2020.101819. Epub 2020 Apr 22.
Becker Muscular dystrophy (BMD) is an X-linked syndrome characterized by progressive muscle weakness. BMD is generally less severe than Duchenne Muscular Dystrophy. BMD is caused by mutations in the dystrophin gene that normally give rise to the production of a truncated but partially functional dystrophin protein. We generated an induced pluripotent cell line from dermal fibroblasts of a BMD patient carrying a splice mutation in the dystrophin gene (c.1705-8 T>C). The iPSC cell-line displayed the characteristic pluripotent-like morphology, expressed pluripotency markers, differentiated into cells of the three germ layers and had a normal karyotype.
贝克肌营养不良症(BMD)是一种 X 连锁综合征,其特征为进行性肌肉无力。BMD 通常比杜氏肌营养不良症(Duchenne Muscular Dystrophy)的病情轻。BMD 是由肌营养不良蛋白基因突变引起的,这些基因突变通常会导致产生截断但部分功能正常的肌营养不良蛋白。我们从携带肌营养不良蛋白基因剪接突变(c.1705-8 T>C)的 BMD 患者的皮肤成纤维细胞中生成了一个诱导多能干细胞系。该 iPSC 细胞系表现出典型的多能样形态,表达多能性标记物,分化为三个胚层的细胞,并且具有正常的核型。