携带GBA基因N227S突变的帕金森病患者来源的人诱导多能干细胞系（PNUSCRi001-A）的生成。
Generation of Parkinson's disease patient-derived human induced pluripotent stem cells line (PNUSCRi001-A) carrying a N227S mutation in GBA gene.
作者信息
Lee Nayeon, Moon Hye-Ji, Park So-Hyun, Moon Ji-Young, Park Ka-Kyung, Kim Jae-Ho, Lee Jae-Hyeok
机构信息
Convergence Stem Cell Research Center, Medical Research Institute, Pusan National University School of Medicine, Yangsan, Gyeongsangnam-do, Republic of Korea; Department of Physiology, Pusan National University School of Medicine, Yangsan, Gyeongsangnam-do, Republic of Korea.
Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Gyeongsangnam-do, Republic of Korea.
出版信息
Stem Cell Res. 2022 Dec;65:102959. doi: 10.1016/j.scr.2022.102959. Epub 2022 Oct 31.
The hiPSC line was generated from peripheral blood mononuclear cells (PBMCs) collected by a male patient with young onset Parkinson's disease, carrying on heterozygous c.680 A > G (N227S) mutation in the GBA gene. The PBMCs was reprogrammed into an induced pluripotent stem cell (iPSC) line (PNUSCRi001-A hiPSCs) using non-integrative sendai virus. The hiPSC line, PNUSCRi001-A displayed a normal karyotype and the Expression of pluripotency markers that is capable of producing derivatives of three germ layers (Ectoderm, Endoderm and Mesoderm).
该人诱导多能干细胞系由一名患有早发性帕金森病的男性患者采集的外周血单核细胞（PBMC）产生，该患者的GBA基因携带杂合的c.680 A>G（N227S）突变。使用非整合型仙台病毒将PBMC重编程为诱导多能干细胞（iPSC）系（PNUSCRi001-A hiPSCs）。人诱导多能干细胞系PNUSCRi001-A显示出正常的核型，并表达多能性标志物，能够产生三个胚层（外胚层、内胚层和中胚层）的衍生物。
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