| RRC ID |
64674
|
| 著者 |
Yada Y, Kondo T, Suga M, Tsukita K, Enami T, Shibukawa R, Sagara Y, Okanishi Y, Imamura K, Kihara T, Inoue H.
|
| タイトル |
Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification.
|
| ジャーナル |
Stem Cell Res
|
| Abstract |
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.
|
| 巻・号 |
53
|
| ページ |
102274
|
| 公開日 |
2021-5-1
|
| DOI |
10.1016/j.scr.2021.102274
|
| PII |
S1873-5061(21)00120-3
|
| PMID |
33714066
|
| MeSH |
Basal Ganglia / metabolism
Basal Ganglia Diseases* / genetics
Humans
Induced Pluripotent Stem Cells* / metabolism
Mutation
Neurodegenerative Diseases* / genetics
Sodium-Phosphate Cotransporter Proteins, Type III / genetics
Xenotropic and Polytropic Retrovirus Receptor
|
| IF |
4.495
|
| リソース情報 |
| ヒト・動物細胞 |
HPS3900
Vero(RCB0001) |
