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Generation of induced pluripotent stem cells (NIMHi001-A) from a Parkinson's disease patient of East Indian ethnicity carrying LRRK2 I1371V variant.
Stem Cell Research ( IF 1.2 ) Pub Date : 2020-03-17 , DOI: 10.1016/j.scr.2020.101768
Indrani Datta 1 , Sowmithra 1 , Soham Jagtap 1 , Chandrakanta Potdar 1 , Ravi Yadav 2 , Pramod Pal 2
Affiliation  

Mutations in the Leucine Repeat Rich Kinase-2 (LRRK2) gene have been reported in familial Parkinson's disease (PD) cases. We have generated induced pluripotent stem cells (iPSCs) using Sendai-virus reprogramming-method from peripheral blood mononuclear cells of PD-patient of East-Indian ethnicity carrying the I1371V mutation in LRRK2 gene. PD diagnosis was performed using Unified Parkinson's Disease rating scale (UPDRS) score and confirmed by [18F]fluoro-l-dopa [F-DOPA] positron emission tomography (F-DOPA PET). The iPSC line was characterized for self-renewal and pluripotency. This cellular model will provide a valuable resource not only for drug-screening platform but also to understand the pathophysiology of this disease.



中文翻译:

从携带LRRK2 I1371V变异体的东印度裔帕金森氏病患者中诱导多能干细胞(NIMHi001-A)生成。

在家族性帕金森氏病(PD)病例中已经报道了亮氨酸重复富集激酶2(LRRK2)基因突变。我们已经使用仙台病毒重编程法从东印度裔PD患者携带LRRK2基因中的I1371V突变的外周血单个核细胞中生成了诱导多能干细胞(iPSC)。使用统一帕金森氏病评分量表(UPDRS)评分进行PD诊断,并通过[ 18 F]氟-1-多巴[F-DOPA]正电子发射断层扫描(F-DOPA PET)进行确认。iPSC系列具有自我更新和多能性的特点。这种细胞模型不仅为药物筛选平台提供了宝贵的资源,而且为了解这种疾病的病理生理学提供了宝贵的资源。

更新日期:2020-03-17
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