Dermal fibroblasts from a patient carrying a heterozygous c.88G > C mutation in the SNCA gene that encodes alpha-synuclein were reprogrammed to pluripotency by retroviruses. This pathogenic mutation generates the p.A30P form of the alpha-synuclein protein leading to autosomal dominantly inherited Parkinson’s disease (PD). Two clonal iPS cell lines were generated (A30P-3 and A30P-4) and characterised by validating the silencing of viral transgenes, the expression of endogenous pluripotency genes, directed differentiation into three germ layers in-vitro and a stable molecular genotype. These iPSC lines will serve as a valuable resource in determining the role of the p.A30P SNCA mutation in PD pathogenesis.

将来自编码α-突触核蛋白的SNCA基因中杂合的c.88G> C突变的患者的皮肤成纤维细胞通过逆转录病毒重新编程为多能性。这种致病性突变产生α-突触核蛋白的p.A30P形式，导致常染色体显性遗传的帕金森氏病（PD）。产生了两个克隆的iPS细胞系（A30P-3和A30P-4），其特征在于验证病毒转基因的沉默，内源多能性基因的表达，体外定向分化为三个胚层和稳定的分子基因型。这些iPSC品系将成为确定p.A30P SNCA突变在PD发病机理中的重要资源。