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Induced pluripotent stem cells from a spinal muscular atrophy patient

Author

Listed:
  • Allison D. Ebert

    (The Waisman Center, and,
    The Stem Cell and Regenerative Medicine Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, Wisconsin 53705, USA)

  • Junying Yu

    (The Genome Center and Wisconsin National Primate Research Center, University of Wisconsin-Madison, 425 Henry Mall, Madison, Wisconsin 53706, USA)

  • Ferrill F. Rose

    (Bond Life Sciences Center, University of Missouri, 1201 Rollins Road, Columbia, Missouri 65211, USA)

  • Virginia B. Mattis

    (Bond Life Sciences Center, University of Missouri, 1201 Rollins Road, Columbia, Missouri 65211, USA)

  • Christian L. Lorson

    (Bond Life Sciences Center, University of Missouri, 1201 Rollins Road, Columbia, Missouri 65211, USA)

  • James A. Thomson

    (The Stem Cell and Regenerative Medicine Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, Wisconsin 53705, USA
    The Genome Center and Wisconsin National Primate Research Center, University of Wisconsin-Madison, 425 Henry Mall, Madison, Wisconsin 53706, USA
    University of Wisconsin-Madison, 1300 University Avenue Madison, Wisconsin 53706, USA)

  • Clive N. Svendsen

    (The Waisman Center, and,
    The Stem Cell and Regenerative Medicine Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, Wisconsin 53705, USA
    University of Wisconsin-Madison, 1300 University Avenue Madison, Wisconsin 53706, USA
    University of Wisconsin-Madison, 600 North Highland Avenue, Madison, Wisconsin 53792, USA)

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.

Suggested Citation

  • Allison D. Ebert & Junying Yu & Ferrill F. Rose & Virginia B. Mattis & Christian L. Lorson & James A. Thomson & Clive N. Svendsen, 2009. "Induced pluripotent stem cells from a spinal muscular atrophy patient," Nature, Nature, vol. 457(7227), pages 277-280, January.
    • Handle: RePEc:nat:nature:v:457:y:2009:i:7227:d:10.1038_nature07677
    DOI: 10.1038/nature07677
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    Cited by:

    1. Alfonso Ávila-Robinson & Shintaro Sengoku, 2017. "Tracing the knowledge-building dynamics in new stem cell technologies through techno-scientific networks," Scientometrics, Springer;Akadémiai Kiadó, vol. 112(3), pages 1691-1720, September.
    2. Ju-Chan Park & Yun-Jeong Kim & Gue-Ho Hwang & Chan Young Kang & Sangsu Bae & Hyuk-Jin Cha, 2024. "Enhancing genome editing in hPSCs through dual inhibition of DNA damage response and repair pathways," Nature Communications, Nature, vol. 15(1), pages 1-11, December.

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