从携带双基因突变 LRRK2 p.G2019S 和 GBA1 p.N409S 的帕金森病患者中诱导多能干细胞的产生和特性鉴定。
Generation and characterization of induced pluripotent stem cells from a Parkinson's disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations.
机构信息
Translational Neuroscience, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Luxembourg.
University of Turin, Department of Neuroscience, Italy; Parkinson Institute, ASST "Pini-CTO", Milano, Italy.
出版信息
Stem Cell Res. 2023 Oct;72:103212. doi: 10.1016/j.scr.2023.103212. Epub 2023 Sep 28.
We describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a Parkinson's disease (PD) patient carrying the p.G2019S mutation in the LRRK2 gene and the p.N409S mutation in the GBA1 gene. iPSCs were generated via Sendai virus transduction of Yamanaka factors. The presence of GBA1 p.N409S and LRRK2 p.G2019S was confirmed by Sanger sequencing. The iPSCs express pluripotency markers, are capable of in vitro differentiation into the three germ layers and have a normal karyotype. The newly generated line will be used for in vitro PD modeling by investigating the role of each mutation in iPSC-derived dopaminergic neurons.
我们描述了一个诱导多能干细胞（iPSC）系，它是从一位帕金森病（PD）患者的成纤维细胞中衍生而来的，该患者携带 LRRK2 基因中的 p.G2019S 突变和 GBA1 基因中的 p.N409S 突变。iPSC 通过 Sendai 病毒转导 Yamanaka 因子生成。通过 Sanger 测序证实了 GBA1 p.N409S 和 LRRK2 p.G2019S 的存在。iPSC 表达多能性标记物，能够体外分化为三个胚层，并具有正常的核型。新生成的细胞系将通过研究每个突变在 iPSC 衍生的多巴胺能神经元中的作用，用于体外 PD 建模。
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