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| ファイル | 記述 | サイズ | フォーマット | |
|---|---|---|---|---|
| j.scr.2020.101884.pdf | 869.55 kB | Adobe PDF | 見る/開く |
| タイトル: | Generation of a transgene-free iPSC line and genetically modified line from a facioscapulohumeral muscular dystrophy type 2 (FSHD2) patient with SMCHD1 p.Lys607Ter mutation |
| 著者: | Sasaki-Honda, Mitsuru Kagita, Akihiro Jonouchi, Tatsuya Araki, Toshiyuki Hotta, Akitsu    https://orcid.org/0000-0002-2619-7441 (unconfirmed)Sakurai, Hidetoshi https://orcid.org/0000-0002-5383-9366 (unconfirmed) |
| 著者名の別形: | 本田, 充 鍵田, 明宏 城之内, 達也 荒木, 敏之 堀田, 秋津 櫻井, 英俊 |
| 発行日: | Aug-2020 |
| 出版者: | Elsevier BV |
| 誌名: | Stem Cell Research |
| 巻: | 47 |
| 論文番号: | 101884 |
| 抄録: | Facioscapulohumeral muscular dystrophy type2 (FSHD2), which constitutes approximately 5% of total FSHD cases and develops the same symptoms as FSHD type 1 (FSHD1), is caused by various mutations in genes including SMCHD1. We report the generation and characterization of an iPSC line derived from an FSHD2 patient carrying the SMCHD1 p.Lys607Ter mutation and its gene-corrected iPSC line which are free from transgene. These iPSC lines maintained normal karyotype, presented typical morphology, expressed endogenous pluripotency markers, and could be differentiated into ectodermal, mesodermal and endodermal cells, confirming their pluripotency. |
| 著作権等: | © 2020 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/2433/261853 |
| DOI(出版社版): | 10.1016/j.scr.2020.101884 |
| PubMed ID: | 32711388 |
| 出現コレクション: | 学術雑誌掲載論文等 |
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