Complex aberrant splicing in the induced pluripotent stem cell-derived cardiomyocytes from a patient with long QT syndrome carrying KCNQ1-A344Aspl mutation.

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作者： Yimin,Wuriyanghai ^[1] ; Takeru,Makiyama ^[2] ; Kenichi,Sasaki ^[3] ; Tsukasa,Kamakura ^[3] ; Yuta,Yamamoto ^[3] ; Mamoru,Hayano ^[3] ; Takeshi,Harita ^[3] ; Suguru,Nishiuchi ^[3] ; Jiarong,Chen ^[3] ; Hirohiko,Kohjitani ^[3] ; Sayako,Hirose ^[3] ; Fumika,Yokoi ^[3] ; Jingshan,Gao ^[3] ; Kazuhisa,Chonabayashi ^[4] ; Ken,Watanabe ^[5] ; Seiko,Ohno ^[6] ; Yoshinori,Yoshida ^[7] ; Takeshi,Kimura ^[3] ; Minoru,Horie ^[8]

作者单位： Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Seta-Tsukinowa-cho, Otsu, Japan; Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan. ^[1] Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan. Electronic address: makiyama@kuhp.kyoto-u.ac.jp. ^[2] Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Shogoin, Sakyo-ku, Kyoto, Japan. ^[3] Center for iPS Cell Research and Application, Institute for Integrated Cell-Material Sciences, Kyoto University, Shogoin, Sakyo-ku, Kyoto, Japan. ^[4] Department of Pediatrics, Tazuke Kofukai Foundation, Medical Research Institute, Kitano Hospital, Ohgimachi, Kita-ku, Osaka, Japan. ^[5] Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Seta-Tsukinowa-cho, Otsu, Japan; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Fujishiro-dai, Suita, Osaka, Japan. ^[6] Center for iPS Cell Research and Application, Institute for Integrated Cell-Material Sciences, Kyoto University, Shogoin, Sakyo-ku, Kyoto, Japan. Electronic address: yoshinor@cira.kyoto-u.ac.jp. ^[7] Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Seta-Tsukinowa-cho, Otsu, Japan. ^[8]

关键词 Aberrant splicing I(Ks) activator Induced pluripotent stem cell KCNQ1 Long QT syndrome