Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene
| Autor: | Shin-ichiro Sekine, Takayuki Kondo, Nagahisa Murakami, Keiko Imamura, Takako Enami, Ran Shibukawa, Kayoko Tsukita, Misato Funayama, Masatoshi Inden, Hisaka Kurita, Isao Hozumi, Haruhisa Inoue |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | Stem Cell Research, Vol 24, Iss C, Pp 40-43 (2017) |
| Druh dokumentu: | article |
| ISSN: | 1873-5061 1876-7753 |
| DOI: | 10.1016/j.scr.2017.07.028 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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