Alpha-Synuclein Induces the Unfolded Protein Response in Parkinson’s Disease SNCA Triplication iPSC-Derived Neurons. Homo sapiens

The alpha Synuclein (SNCA) gene is one of the most commonly implicated mediator of Parkinson Disease (PD), changes in dosages are directly associated severity of PD. Here we aim to compare expression within induced pluripotent stem cells derived from a patient with a triplication of the SNCA locus to an isogenic IPSC line with normalized gene dosage through CRISPR/Cas9 mutagenesis.

α-突触核蛋白（alpha Synuclein, SNCA）基因是与帕金森病（Parkinson Disease, PD）最常关联的致病介质之一，其基因剂量变化与帕金森病的严重程度直接相关。本研究旨在对比源自SNCA基因座三倍体患者的诱导多能干细胞（induced pluripotent stem cells, IPSC），与通过CRISPR/Cas9诱变技术实现基因剂量标准化的同基因诱导多能干细胞系之间的基因表达差异。