Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK.
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK; The Francis Crick Institute, 1 Midland Road, London, UK.
Stem Cell Res. 2023 Sep;71:103134. doi: 10.1016/j.scr.2023.103134. Epub 2023 Jun 6.
Mutations or multiplications of the SNCA (Synuclein Alpha) gene cause rare autosomal dominant Parkinson's disease (PD). The SNCA G51D missense mutation is associated with a synucleinopathy that shares PD and multiple system atrophy (MSA) characteristics. We generated induced pluripotent stem cell (iPSC) lines from two individuals with SNCA G51D missense mutations at risk of PD. Dermal fibroblasts were reprogrammed to pluripotency using a non-integrating mRNA-based protocol. The resulting human iPSCs displayed normal morphology, expressed markers associated with pluripotency, and differentiated into the three germ layers. The iPSC lines could facilitate disease-modelling and therapy development studies for synucleinopathies.
SNCA（α-突触核蛋白）基因的突变或扩增会导致罕见的常染色体显性遗传帕金森病（PD）。SNCA G51D 错义突变与一种突触核蛋白病相关，该疾病具有 PD 和多系统萎缩（MSA）的共同特征。我们从两名 SNCA G51D 错义突变的 PD 高危个体中生成了诱导多能干细胞（iPSC）系。使用非整合的基于 mRNA 的方案将皮肤成纤维细胞重编程为多能性。所得的人 iPSC 显示出正常的形态，表达与多能性相关的标志物，并分化为三个胚层。iPSC 系可以促进突触核蛋白病的疾病建模和治疗开发研究。
