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このアイテムのファイル:
| ファイル | 記述 | サイズ | フォーマット | |
|---|---|---|---|---|
| j.scr.2021.102337.pdf | 4.15 MB | Adobe PDF | 見る/開く |
| タイトル: | Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations |
| 著者: | Kuramochi, Yuji Awaya, Tomonari    https://orcid.org/0000-0002-9004-3172 (unconfirmed)Matsuo-Takasaki, Mami Takami, Miho An, Yuri Li, Jingyue Hemmi, Yasuko Wakabayashi, Tamami Arai, Yutaka Inoue, Jun Noguchi, Michiya Nakamura, Yukio Asaka, Isao Akimoto, Kazunori Saito, Megumu K. Hayashi, Yohei |
| 著者名の別形: | 粟屋, 智就 浅香, 勲 齋藤, 潤 |
| 発行日: | May-2021 |
| 出版者: | Elsevier BV |
| 誌名: | Stem Cell Research |
| 巻: | 53 |
| 論文番号: | 102337 |
| 抄録: | Adrenoleukodystrophy (ALD) is an X-linked genetic disorder, characterized by demyelination in the central nervous system and adrenal insufficiency. Human induced pluripotent stem cell (hiPSC) lines derived from two Japanese male patients with ALD were generated from skin fibroblasts using retroviral vectors. The generated hiPSC lines showed self-renewal and pluripotency, and carried either a missense or a nonsense mutation in ABCD1 gene. Since the molecular pathogenesis caused by ABCD1 dysfunction remains unclear, these cell resources provide useful tools to establish disease models and to develop new therapies for X-ALD. |
| 著作権等: | © 2021 The Authors. Published by Elsevier B.V. This is an open access article under the Creative Commons Attribution 4.0 International license. |
| URI: | http://hdl.handle.net/2433/275666 |
| DOI(出版社版): | 10.1016/j.scr.2021.102337 |
| PubMed ID: | 33901816 |
| 出現コレクション: | 学術雑誌掲載論文等 |
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