The generation of induced pluripotent stem cells (iPSCs) from patients with infantile and late-onset types of Pompe disease and the effects of treatment with acid-伪-glucosidase in Pompe's iPSCs
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- 作者：Takashi Higuchia ; b ; Shiho Kawagoea ; c ; Makoto Otsud ; Yohta Shimadab ; Hiroshi Kobayashia ; b ; e ; Reimi Hirayamaa ; f ; Koji Etog ; Hiroyuki Idaa ; b ; e ; Toya Ohashia ; b ; e ; Hiromitsu Nakauchid ; Yoshikatsu Etoa ; f ; yosh@sepia.ocn.ne.jp" class="auth_mail
- 关键词：PD ; Pompe disease ; GSDII ; glycogen storage disease type II ; GAA ; acid-伪-glycosidase ; LSD ; lysosomal storage disease ; ERT ; enzyme replacement therapy ; iPSC ; induced pluripotent stem cell ; PAS ; Periodic-acid-Schiff ; ALP ; alkaline phosphates ; TEM ; transmission electron microscope
- 刊名：Molecular Genetics and Metabolism
- 出版年：May 2014
- 年：2014
- 卷：112
- 期：1
- 页码：44-48
- 全文大小：1019 K
文摘
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We generated Pompe disease iPSCs (PD-iPSCs) from two clinical phenotypes.
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These iPSCs were generated without treatment of GAA that rescues PD-fibroblast.
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There were massive glycogen granules in these PD-iPSCs with TEM analysis.
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The glycogen granules were decreased in the PD-iPSCs treated with rhGAA.
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Our data shows PD-iPSCs could be a powerful tool for pathological analysis for PD.