Induced pluripotent stem cells from a spinal muscular atrophy patient.

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  • Additional Information
    • Subject Terms:
    • Abstract:
      Spinal muscular atrophy is one of the most common inherited forms of neurological disease leading to infant mortality. Patients have selective loss of lower motor neurons resulting in muscle weakness, paralysis and often death. Although patient fibroblasts have been used extensively to study spinal muscular atrophy, motor neurons have a unique anatomy and physiology which may underlie their vulnerability to the disease process. Here we report the generation of induced pluripotent stem cells from skin fibroblast samples taken from a child with spinal muscular atrophy. These cells expanded robustly in culture, maintained the disease genotype and generated motor neurons that showed selective deficits compared to those derived from the child’s unaffected mother. This is the first study to show that human induced pluripotent stem cells can be used to model the specific pathology seen in a genetically inherited disease. As such, it represents a promising resource to study disease mechanisms, screen new drug compounds and develop new therapies. [ABSTRACT FROM AUTHOR]
    • Abstract:
      Copyright of Nature is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
    • ISSN:
      0028-0836
    • Accession Number:
      10.1038/nature07677
    • Accession Number:
      36113262
  • Citations
    • ABNT:
      EBERT, A. D. et al. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature, [s. l.], v. 457, n. 7227, p. 277–280, 2009. DOI 10.1038/nature07677. Disponível em: http://widgets.ebscohost.com/prod/customlink/proxify/proxify.php?count=1&encode=0&proxy=&find_1=&replace_1=&target=http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=36113262&authtype=sso&custid=s5834912. Acesso em: 23 jan. 2020.
    • AMA:
      Ebert AD, Yu J, Rose FF, et al. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature. 2009;457(7227):277-280. doi:10.1038/nature07677.
    • APA:
      Ebert, A. D., Yu, J., Rose, F. F., Mattis, V. B., Lorson, C. L., Thomson, J. A., & Svendsen, C. N. (2009). Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature, 457(7227), 277–280. https://doi.org/10.1038/nature07677
    • Chicago/Turabian: Author-Date:
      Ebert, Allison D., Junying Yu, Ferrill F. Rose, Virginia B. Mattis, Christian L. Lorson, James A. Thomson, and Clive N. Svendsen. 2009. “Induced Pluripotent Stem Cells from a Spinal Muscular Atrophy Patient.” Nature 457 (7227): 277–80. doi:10.1038/nature07677.
    • Harvard:
      Ebert, A. D. et al. (2009) ‘Induced pluripotent stem cells from a spinal muscular atrophy patient’, Nature, 457(7227), pp. 277–280. doi: 10.1038/nature07677.
    • Harvard: Australian:
      Ebert, AD, Yu, J, Rose, FF, Mattis, VB, Lorson, CL, Thomson, JA & Svendsen, CN 2009, ‘Induced pluripotent stem cells from a spinal muscular atrophy patient’, Nature, vol. 457, no. 7227, pp. 277–280, viewed 23 January 2020, .
    • MLA:
      Ebert, Allison D., et al. “Induced Pluripotent Stem Cells from a Spinal Muscular Atrophy Patient.” Nature, vol. 457, no. 7227, Jan. 2009, pp. 277–280. EBSCOhost, doi:10.1038/nature07677.
    • Chicago/Turabian: Humanities:
      Ebert, Allison D., Junying Yu, Ferrill F. Rose, Virginia B. Mattis, Christian L. Lorson, James A. Thomson, and Clive N. Svendsen. “Induced Pluripotent Stem Cells from a Spinal Muscular Atrophy Patient.” Nature 457, no. 7227 (January 15, 2009): 277–80. doi:10.1038/nature07677.
    • Vancouver/ICMJE:
      Ebert AD, Yu J, Rose FF, Mattis VB, Lorson CL, Thomson JA, et al. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature [Internet]. 2009 Jan 15 [cited 2020 Jan 23];457(7227):277–80. Available from: http://widgets.ebscohost.com/prod/customlink/proxify/proxify.php?count=1&encode=0&proxy=&find_1=&replace_1=&target=http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=36113262&authtype=sso&custid=s5834912