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J-GLOBAL ID：201702279378577303   Reference number：17A1813821

Development of a Patient-Derived Induced Pluripotent Stem Cell Model for the Investigation of SCN5A-D1275N-Related Cardiac Sodium Channelopathy

SCN5A-D1275N関連心臓ナトリウムチャネルの疾患研究のための患者由来iPS細胞モデルの開発

Author (24)： Hayano Mamoru (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Makiyama Takeru (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Kamakura Tsukasa (Division of Arrhythmia and Electrophysiology, Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center) ,  Watanabe Hiroshi (Department of Cardiovascular Biology and Medicine, Niigata University Graduate School of Medical and Dental Sciences) ,  Sasaki Kenichi (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Funakoshi Shunsuke (Center for iPS Cell Research and Application (CiRA), Kyoto University) ,  Wuriyanghai Yimin (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Wuriyanghai Yimin (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science) ,  Nishiuchi Suguru (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Harita Takeshi (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Yamamoto Yuta (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Kohjitani Hirohiko (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Hirose Sayako (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Yokoi Fumika (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Chen Jiarong (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Baba Osamu (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Horie Takahiro (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Chonabayashi Kazuhisa (Center for iPS Cell Research and Application (CiRA), Kyoto University) ,  Ohno Seiko (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science) ,  Toyoda Futoshi (Department of Physiology, Shiga University of Medical Science) ,  Yoshida Yoshinori (Center for iPS Cell Research and Application (CiRA), Kyoto University) ,  Ono Koh (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine) ,  Horie Minoru (Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science) ,  Kimura Takeshi (Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine)
Material： Circulation Journal  (Circ J)
Volume： 81  Issue： 12  Page： 1783-1791(J-STAGE)  Publication year： 2017 
JST Material Number： F0908A  ISSN： 1346-9843  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *D1275N遺伝子 ,...

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Author keywords (5)： Cardiac conduction disease ,  Electrophysiology ,  Human-induced pluripotent stem cell ,  Proteasome ,  SCN5A

JST classification (1)： Basic medicine on cardiovascular system  (GJ01020K)

Substance index (1)： MG-132

Reference (38)：

• 1. Balser JR. Structure and function of the cardiac sodium channels. Cardiovasc Res 1999; 42: 327-338.
• 2. Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest 2003; 112: 1019-1028.
• 3. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995; 80: 805-811.
• 4. Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, et al. A single Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res 1999; 85: 1206-1213.
• 5. Ellinor PT, Nam EG, Shea MA, Milan DJ, Ruskin JN, MacRae CA. Cardiac sodium channel mutation in atrial fibrillation. Heart Rhythm 2008; 5: 99-105.

Terms in the title (8)： 心臓 ,  ナトリウムチャネル ,  疾患 ,  研究 ,  患者 ,  iPS細胞 ,  モデル ,  開発