Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification

从特发性基底神经节钙化患者体内产生的人类诱导性多能干细胞

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作者:Yuichiro Yada, Takayuki Kondo, Mika Suga, Kayoko Tsukita, Takako Enami, Ran Shibukawa, Yukako Sagara, Yasue Okanishi, Keiko Imamura, Takeshi Kihara, Haruhisa Inoue

Abstract

Idiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative disease, characterized by abnormal calcium deposits in basal ganglia of the brain. The affected individuals exhibit movement disorders, and progressive deterioration of cognitive and psychiatric ability. The genetic cause of the disease is mutation in one of several different genes, SLC20A2, PDGFB, PDGFRB, XPR1 or MYORG, which inheritably or sporadically occurs. Here we generated an induced pluripotent stem cell (iPSC) line from an IBGC patient, which is likely be a powerful tool for revealing the pathomechanisms and exploring potential therapeutic candidates of IBGC.

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