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

Stem cell research - 1 May 2021

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

Abstract excerpt

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...

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PMID: 33714066
DOI: 10.1016/j.scr.2021.102274

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