Generation of a human induced pluripotent stem cell line derived from a Parkinson's disease patient carrying SNCA duplication
Generation of a human induced pluripotent stem cell line derived from a Parkinson's disease patient carrying SNCA duplication
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源自携带 SNCA 重复的帕金森病患者的人类诱导多能干细胞系的产生
DOI：
10.1016/j.scr.2020.101828
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发表时间：
2020
影响因子：
1.2
通讯作者：
Hidefumi Suzuki et al.
中科院分区：
文献类型：
--
作者：
Ikeda Shuhei;Saito Satoshi...;佐治直樹;Hidefumi Suzuki et al.
帕金森病（PD）是一种病因不明的破坏性运动障碍。SNCA基因的复制导致常染色体显性遗传型家族性PD以及基因的错义突变。我们从携带SNCA重复的PD患者中建立并鉴定了人诱导多能干细胞（iPSC）系。iPSC系显示出分化成PD中受影响的中脑多巴胺能神经元的能力。iPSC系将用于疾病建模应用。
Parkinson's disease (PD) is a devastating movement disorder with an unknown etiology. Multiplications of theSNCAgene cause the autosomal dominant form of familial PD as well as missense mutations of the gene. We established and characterized a human induced pluripotent stem cell (iPSC) line from a PD patient carryingSNCAduplication. The iPSC line displayed a capacity to differentiate into midbrain dopaminergic neurons affected in PD. The iPSC line will be useful for disease modeling applications.