从一名携带LRRK2 p.G2019S突变的帕金森病患者中生成诱导多能干细胞系（DANi-011A）。
Generation of an induced pluripotent stem cell line (DANi-011A) from a Parkinson's disease patient with a LRRK2 p.G2019S mutation.
作者信息
Chen Muwan, Maimaitili Muyesier, Buchholdt Susanne Hvolbøl, Jensen Uffe Birk, Febbraro Fabia, Denham Mark
机构信息
Danish Research Institute of Translational Neuroscience (DANDRITE), Nordic EMBL Partnership for Molecular Medicine, Aarhus University, Denmark; Department of Biomedicine, Aarhus University, Denmark.
Department of Biomedicine, Aarhus University, Denmark; Department for Clinical Genetics, Aarhus University Hospital, Denmark.
出版信息
Stem Cell Res. 2020 May;45:101781. doi: 10.1016/j.scr.2020.101781. Epub 2020 Mar 29.
We generated an induced pluripotent stem cell (iPSC) line from fibroblasts of a clinically diagnosed 70 year old female Parkinson's disease (PD) patient heterozygous for a pathogenic missense variant (p.G2019S; c. 6055 G > A) in the leucine-rich repeat kinase 2 (LRRK2) gene by using non-integrating Sendai viruses. The DANi-011A iPSC line has a normal karyotype and is free from Sendai viruses. The expression of pluripotent markers in the iPSC line was confirmed by immunofluorescent staining, and we confirmed its ability to differentiate into the three germ layers. The DANi-011A iPSC line can be used for modeling PD and as a drug-screening platform.
我们通过使用非整合型仙台病毒，从一名临床诊断为帕金森病（PD）的70岁女性患者的成纤维细胞中生成了诱导多能干细胞（iPSC）系。该患者为富含亮氨酸重复激酶2（LRRK2）基因致病性错义变体（p.G2019S；c.6055 G＞A）的杂合子。DANi-011A iPSC系具有正常的核型，且不含仙台病毒。通过免疫荧光染色确认了iPSC系中多能性标志物的表达，并证实了其分化为三个胚层的能力。DANi-011A iPSC系可用于帕金森病建模和作为药物筛选平台。
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