源自一名因SLC20A2基因突变导致家族性特发性基底节钙化（IBGC）患者的诱导多能干细胞。
Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene.
作者信息
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
机构信息
Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan; Laboratory of Medical Therapeutics and Molecular Therapeutics, Gifu Pharmaceutical University, Gifu, Japan.
Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.
出版信息
Stem Cell Res. 2017 Oct;24:40-43. doi: 10.1016/j.scr.2017.07.028. Epub 2017 Jul 29.
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.
特发性基底节钙化（IBGC），也称为法尔病或原发性家族性脑钙化（PFBC），是一种罕见的神经退行性疾病，其特征是基底节和其他脑区出现钙沉积，导致神经精神和运动症状。我们从一名IBGC患者身上建立了人诱导多能干细胞（iPSC）。所建立的IBGC-iPSC携带SLC20A2基因c.1848G>A突变（翻译后的蛋白质PiT2的p.W616*），并且还表现出典型的iPSC形态、多能性标志物、正常核型以及体外分化为三个胚层的能力。该iPSC系将有助于进一步阐明IBGC的发病机制和/或药物开发。
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