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Generation of an induced pluripotent stem cell line (DANi-011A) from a Parkinson's disease patient with a LRRK2 p.G2019S mutation.
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-03-29 , DOI: 10.1016/j.scr.2020.101781
Muwan Chen 1 , Muyesier Maimaitili 1 , Susanne Hvolbøl Buchholdt 1 , Uffe Birk Jensen 2 , Fabia Febbraro 3 , Mark Denham 1
Affiliation  

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.



中文翻译:

从具有LRRK2 p.G2019S突变的帕金森氏病患者中产生诱导性多能干细胞系(DANi-011A)。

我们从富含亮氨酸的致病性错义变体(p.G2019S; c.6055 G  >  A)的临床诊断为70岁女性帕金森氏病(PD)患者杂合的成纤维细胞中生成诱导性多能干细胞(iPSC)系。通过使用非整合型仙台病毒复制重复激酶2(LRRK2)基因。DANi-011A iPSC品系具有正常的核型,没有仙台病毒。通过免疫荧光染色证实了iPSC系中多能标记的表达,并且我们证实了其能够分化为三个胚层的能力。DANi-011A iPSC系列可用于PD建模和药物筛选平台。

更新日期:2020-03-29
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