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

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 t...

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Bibliographic Details
Published in:Stem cell research 2021-05, Vol.53, p.102274-102274, Article 102274
Main Authors: Yada, Yuichiro, Kondo, Takayuki, Suga, Mika, Tsukita, Kayoko, Enami, Takako, Shibukawa, Ran, Sagara, Yukako, Okanishi, Yasue, Imamura, Keiko, Kihara, Takeshi, Inoue, Haruhisa
Format: Article
Language:English
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Summary: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 or sporadically occurs. Here we generated an induced pluripotent stem cell (iPSC) line from an IBGC patient, which is likely be a powerful tool for revealing the pathomechanisms and exploring potential therapeutic candidates of IBGC.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2021.102274