The Cerebellum

, Volume 17, Issue 1, pp 37–41 | Cite as

Self-Organized Cerebellar Tissue from Human Pluripotent Stem Cells and Disease Modeling with Patient-Derived iPSCs

  • Keiko MugurumaEmail author


Recent advances in the techniques that differentiate induced pluripotent stem cells (iPSCs) into specific types of cells enabled us to establish in vitro cell-based models as a platform for drug discovery. iPSC-derived disease models are advantageous to generation of a large number of cells required for high-throughput screening. Furthermore, disease-relevant cells differentiated from patient-derived iPSCs are expected to recapitulate the disorder-specific pathogenesis and physiology in vitro. Such disease-relevant cells will be useful for developing effective therapies. We demonstrated that cerebellar tissues are generated from human PSCs (hPSCs) in 3D culture systems that recapitulate the in vivo microenvironments associated with the isthmic organizer. Recently, we have succeeded in generation of spinocerebellar ataxia (SCA) patient-derived Purkinje cells by combining the iPSC technology and the self-organizing stem cell 3D culture technology. We demonstrated that SCA6-derived Purkinje cells exhibit vulnerability to triiodothyronine depletion, which is suppressed by treatment with thyrotropin-releasing hormone and Riluzole. We further discuss applications of patient-specific iPSCs to intractable cerebellar disease.


Purkinje cells Pluripotent stem cells Spinocerebellar ataxia Disease modeling Brain organoid Self-organization Cerebellar development 



This work was supported by grant-in-aid from Ministry of Health, Labour and Welfare, grant-in-aid for Scientific Research (C) from Japan Society for the Promotion of Science (JSPS), and the Core Program for Disease Modeling using iPS Cells from JST and AMED.

Compliance with Ethical Standards

Competing Interests

The author declares that she has no competing interests.


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© Springer Science+Business Media, LLC, part of Springer Nature 2017

Authors and Affiliations

  1. 1.Laboratory for Cell AsymmetryRIKEN Center for Developmental BiologyChuo KobeJapan

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