从一名携带GBA基因新型p.R301C突变的帕金森病患者身上生成诱导多能干细胞系（CSC-46）。
Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene.
作者信息
Gustavsson Nadja, Marote Ana, Pomeshchik Yuriy, Russ Kaspar, Azevedo Carla, Chumarina Margarita, Goldwurm Stefano, Collin Anna, Pinto Luisa, Salgado António J, Klementieva Oxana, Roybon Laurent, Savchenko Ekaterina
机构信息
Medical Microspectroscopy, Department of Experimental Medical Science, Lund University, Lund, Sweden.
Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3B's, PT Government Associate Laboratory, Braga/Guimarães, Portugal.
出版信息
Stem Cell Res. 2019 Jan;34:101373. doi: 10.1016/j.scr.2018.101373. Epub 2018 Dec 26.
Mutations in the glucocerebrosidase (GBA) gene have been associated with the development of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line was generated from a 60-year old patient diagnosed with PD and carrying a new mutation variant p.R301C in GBA. Using non-integrating Sendai virus-based technology, we utilized OCT3/4, SOX2, c-MYC and KLF4 transcription factors to reprogram skin fibroblasts into iPSCs. The generated iPSC line retained the mutation, displayed expression of common pluripotency markers, differentiated into the three germ layers, and exhibited normal karyotype. The iPSC line can be further used for studying PD pathogenesis.
葡萄糖脑苷脂酶（GBA）基因突变与帕金森病（PD）的发生发展有关。我们从一名60岁被诊断为帕金森病且携带GBA基因新突变体p.R301C的患者身上获取细胞，构建了诱导多能干细胞（iPSC）系。利用基于仙台病毒的非整合技术，我们使用OCT3/4、SOX2、c-MYC和KLF4转录因子将皮肤成纤维细胞重编程为诱导多能干细胞。所构建的诱导多能干细胞系保留了该突变，表达常见的多能性标志物，可分化为三个胚层，并具有正常的核型。该诱导多能干细胞系可进一步用于研究帕金森病的发病机制。
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