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| ファイル | 記述 | サイズ | フォーマット | |
|---|---|---|---|---|
| j.scr.2017.07.028.pdf | 554.25 kB | Adobe PDF | 見る/開く |
| タイトル: | Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene |
| 著者: | 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    https://orcid.org/0000-0003-4736-9537 (unconfirmed) |
| 著者名の別形: | 関根, 信一郎 近藤, 孝之 村上, 永尚 今村, 恵子 江浪, 貴子 澁川, 蘭 月田, 香代子 舟山, 美里 位田, 雅俊 栗田, 尚佳 保住, 功 井上, 治久 |
| 発行日: | Oct-2017 |
| 出版者: | Elsevier BV |
| 誌名: | Stem Cell Research |
| 巻: | 24 |
| 開始ページ: | 40 |
| 終了ページ: | 43 |
| 抄録: | 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. |
| 著作権等: | © 2017 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license(http://creativecommons.org/licenses/by/4.0/). |
| URI: | http://hdl.handle.net/2433/250359 |
| DOI(出版社版): | 10.1016/j.scr.2017.07.028 |
| PubMed ID: | 29034894 |
| 出現コレクション: | 学術雑誌掲載論文等 |
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