Stem Cell Research
Stem Cell Research
3 years ago

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

Isao Hozumi, Ran Shibukawa, Shin-Ichiro Sekine, Haruhisa Inoue, Hisaka Kurita, Takako Enami, Kayoko Tsukita, Takayuki Kondo, Keiko Imamura, Nagahisa Murakami, Masatoshi Inden, Misato Funayama
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 mutation (p.W616* of translated protein PiT2), and also showed typical iPSC morphology, pluripotency markers, normal karyotype, and the ability of in vitro differentiation into three-germ layers. The iPSC line will be useful for further elucidating the pathomechanism and/or drug development for IBGC.

Publisher URL: http://doi.org/10.1016/j.scr.2017.07.028

DOI: 10.1016/j.scr.2017.07.028

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