Genome editing of patient-derived iPSCs identifies a deep intronic variant causing aberrant splicing in hemophilia A.

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作者： Takafumi,Hiramoto ^[1] ; Hiroshi,Inaba ^[2] ; Nemekhbayar,Baatartsogt ^[1] ; Yuji,Kashiwakura ^[1] ; Morisada,Hayakawa ^[1] ; Nobuhiko,Kamoshita ^[3] ; Hiroshi,Nishimasu ^[1] ; Osamu,Nureki ^[3] ; Ei,Kinai ^[4] ; Tsukasa,Ohmori ^[5]

作者单位： Department of Biochemistry, Jichi Medical University School of Medicine, Shimotsuke, Tochigi, Japan. ^[1] Department of Laboratory Medicine, Tokyo Medical University, Tokyo, Japan. ^[2] Center for Gene Therapy Research, Jichi Medical University, Shimotsuke, Tochigi, Japan. ^[3] Structural Biology Division, Research Center for Advanced Science and Technology, The University of Tokyo, Tokyo, Japan. ^[4] Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan. ^[5]

主题词人类(Humans);血友病A(Hemophilia A);诱导多能干细胞(Induced Pluripotent Stem Cells);HEK293细胞(HEK293 Cells);止血药(Hemostatics);RNA, 信使(RNA, Messenger)

DOI 10.1182/bloodadvances.2023010838

PMID 37792826

发布时间 2024-01-10

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Blood advances

2023年7卷22期

7017-7027页

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Genome editing of patient-derived iPSCs identifies a deep intronic variant causing aberrant splicing in hemophilia A.

Blood advances

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Blood advances

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Genome editing of patient-derived iPSCs identifies a deep intronic variant causing aberrant splicing in hemophilia A.

Blood advances

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Blood advances

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