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Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a
http://hdl.handle.net/10069/40462
http://hdl.handle.net/10069/40462888e3511-754b-406f-a434-1008028844dd
名前 / ファイル | ライセンス | アクション |
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SCR49_102095.pdf (3.0 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2020-12-23 | |||||
タイトル | ||||||
タイトル | Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Katagami, Yukimi
× Katagami, Yukimi× Kondo, Takayuki× Suga, Mika× Yada, Yuichiro× Imamura, Keiko× Shibukawa, Ran× Sagara, Yukako× Okanishi, Yasue× Tsukita, Kayoko× Hirayama, Kenji× Era, Takumi× Inoue, Haruhisa |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Glycogen storage disease type 1a (GSD1a) is an autosomal recessive disorder caused by mutations of the glucose-6-phosphatase (G6PC) gene. Mutations of the G6PC gene lead to excessive accumulation of glycogen in the liver, kidney, and intestinal mucosa due to the deficiency of microsomal glucose-6-phosphatase.Human induced pluripotent stem cells (iPSCs) enable the production of patient-derived hepatocytes in culture and are therefore a promising tool for modeling GSD1a. Here, we report the establishment of human iPSCs from a GSD1a patient carrying a G6PC mutation (c.648G > T; p.Leu216 = ). |
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書誌情報 |
Stem Cell Research 巻 49, p. 102095, 発行日 2020-11-23 |
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出版者 | ||||||
出版者 | Elsevier B.V. | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 18735061 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1016/j.scr.2020.102095 | |||||
権利 | ||||||
権利情報 | c 2020 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/). | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Stem Cell Research, 49, art.no.102095; 2020 |