Generation of induced pluripotent stem cells (IBMSi011-A) from a patient with Parkinson's disease carrying LRRK2 p.I1371V mutation

从携带 LRRK2 p.I1371V 突变的帕金森病患者体内生成诱导性多能干细胞 (IBMSi011-A)

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作者:Han-I Lin, Yu-Che Cheng, Hui-Wen Ko, Cheng-Hao Wen, Huai-En Lu, Ching-Ying Huang, Patrick C H Hsieh, Chin-Hsien Lin

Abstract

Leucine rich repeat kinase 2 (LRRK2) is the causative gene for autosomal-dominant familial forms of Parkinson's disease (PD). Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with LRRK2 c.4111A > G (p.I1371V) mutation by using the Sendai-virus delivery system. The resulting iPSCs had a normal karyotype. The iPSCs also showed pluripotency confirmed by immunofluorescent staining and differentiated into the three germ layers in vivo. This cellular model will provide a platform for studying the role of LRRK2 in the disease process.

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