Generation of a human induced pluripotent stem cell line derived from a Parkinson's disease patient carrying SNCA duplication

产生源自携带 SNCA 重复的帕金森病患者的人类诱导性多能干细胞系

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作者:Hidefumi Suzuki, Naohiro Egawa, Takayuki Kondo, Keiko Imamura, Takako Enami, Kayoko Tsukita, Mika Suga, Ran Shibukawa, Yasue Okanishi, Tsuyoshi Uchiyama, Haruhisa Inoue, Ryosuke Takahashi

Abstract

Parkinson's disease (PD) is a devastating movement disorder with an unknown etiology. Multiplications of the SNCA gene 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 carrying SNCA duplication. 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.

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