Datta Indrani, Jagtap Soham, Potdar Chandrakanta, Yadav Ravi, Pal Pramod
Department of Biophysics, National Institute of Mental Health and Neurosciences, Bengaluru 560029, Karnataka, India.
Department of Biophysics, National Institute of Mental Health and Neurosciences, Bengaluru 560029, Karnataka, India.
Stem Cell Res. 2020 Apr;44:101768. doi: 10.1016/j.scr.2020.101768. Epub 2020 Mar 17.
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 [F]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.
在家族性帕金森病（PD）病例中，已报道亮氨酸重复激酶2（LRRK2）基因发生突变。我们使用仙台病毒重编程方法，从携带LRRK2基因I1371V突变的东印度裔PD患者的外周血单个核细胞中生成了诱导多能干细胞（iPSC）。使用统一帕金森病评定量表（UPDRS）评分进行PD诊断，并通过[F]氟代左旋多巴[F-DOPA]正电子发射断层扫描（F-DOPA PET）进行确认。对该iPSC系进行了自我更新和多能性特征分析。这个细胞模型不仅将为药物筛选平台提供宝贵资源，还将有助于理解这种疾病的病理生理学。
