このアイテムのアクセス数: 223
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.2019.101406.pdf | 976.1 kB | Adobe PDF | 見る/開く |
| タイトル: | Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I |
| 著者: | Suga, Mika Kondo, Takayuki Imamura, Keiko Shibukawa, Ran Okanishi, Yasue Sagara, Yukako Tsukita, Kayoko Enami, Takako Furujo, Mahoko Saijo, Kaoru Nakamura, Yukio Osawa, Mitsujiro Saito, Megumu K. Yamanaka, Shinya   Inoue, Haruhisa  https://orcid.org/0000-0003-4736-9537 (unconfirmed) |
| 著者名の別形: | 菅, 三佳 近藤, 孝之 今村, 恵子 大澤, 光次郎 齋藤, 潤 山中, 伸弥 井上, 治久 |
| 発行日: | Apr-2019 |
| 出版者: | Elsevier BV |
| 誌名: | Stem cell research |
| 巻: | 36 |
| 論文番号: | 101406 |
| 抄録: | Mucopolysaccharidosis type I (MPS I) is a rare inherited metabolic disorder caused by defects in alpha-L-iduronidase (IDUA), a lysosomal protein encoded by IDUA gene. MPS I is a progressive multisystemic disorder with a wide range of symptoms, including skeletal abnormalities and cognitive impairment, and is characterized by a wide spectrum of severity levels caused by varied mutations in IDUA. A human iPSC line was established from an attenuated MPS I (Scheie syndrome) patient carrying an IDUA gene mutation (c.266G > A; p.R89Q). This disease-specific iPSC line will be useful for the research of MPS I. |
| 著作権等: | © 2019 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/BY-NC-ND/4.0/). |
| URI: | http://hdl.handle.net/2433/244032 |
| DOI(出版社版): | 10.1016/j.scr.2019.101406 |
| PubMed ID: | 30849633 |
| 出現コレクション: | 学術雑誌掲載論文等 |
このリポジトリに保管されているアイテムはすべて著作権により保護されています。