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Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene.

Stem cell research - 1 Oct 2017

Sekine Shin-Ichiro, Kondo Takayuki, Murakami Nagahisa, Imamura Keiko, Enami Takako, Shibukawa Ran, Tsukita Kayoko, Funayama Misato, Inden Masatoshi, Kurita Hisaka, Hozumi Isao, Inoue Haruhisa

Abstract excerpt

Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease or primary familial brain calcifications (PFBC), is a rare neurodegenerative disorder characterized by calcium deposits in basal ganglia and other brain regions, causing neuropsychiatric and motor symptoms. We established human induced pluripotent stem cells (iPSCs) from an IBGC patient. The established IBGC-iPSCs carried SLC20A2 c.1848G>A...

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PMID: 29034894
DOI: 10.1016/j.scr.2017.07.028

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