Generation of Induced Pluripotent Stem Cells from Skin Fibroblasts of a Patient with Olivopontocerebellar Atrophy

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著者

    • LUO Yumei
    • Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical College
    • FAN Yong
    • Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical College
    • ZHOU Borong
    • Department of Neurology, The Third Affiliated Hospital of Guangzhou Medical College
    • XU Zhiqiang
    • Department of Neurology, The Third Affiliated Hospital of Guangzhou Medical College
    • CHEN Yaoyong
    • Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical College
    • SUN Xiaofang
    • Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical College

抄録

Generation of induced pluripotent stem (iPS) cells from somatic cells of patients represents a powerful tool for disease modeling, and they may have a wide range of applications in cell therapies. Olivopontocerebellar atrophy (OPCA) is a rare and debilitating neurologic disease of insidious onset, characterized by atrophy of the cerebellum pons and inferior olivary nuclei with concomitant ambulation deficits and dyscoordination. Here, we report the generation of iPS cells from skin fibroblasts of a 56-year-old female patient with familial OPCA. OPCA is classified in the autosomal dominant ataxia that is also named spinocerebellar ataxia (SCA) 7. The disease allele of SCA7 gene of the patient contains 45 CAG trinucleotide repeats, the number of which is larger than the normal repeat number (4 to 36 CAG repeats). The OPCA-iPS cells were generated via ectopic expression of four transcription factors: OCT4, SOX2, KLF4 and c-MYC. The OPCA-iPS cells expressed the pluripotency markers, and they can be differentiated into various somatic cell types in vitro and in vivo. Furthermore, the iPS cells also can be committed to differentiate into neural cells. Therefore, the OPCA-iPS cells offer an unprecedented cell model to investigate disease mechanisms, discover novel drugs, and develop new therapies for OPCA.

収録刊行物

  • Tohoku journal of experimental medicine

    Tohoku journal of experimental medicine 226(2), 151-159, 2012-02-01

    Tohoku University Medical Press

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各種コード

  • NII論文ID(NAID)
    10030197239
  • NII書誌ID(NCID)
    AA00863920
  • 本文言語コード
    ENG
  • 資料種別
    ART
  • ISSN
    00408727
  • データ提供元
    CJP書誌  J-STAGE 
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