Abstract
Mitochondrial disease is a group of disorders caused by dysfunctional mitochondria, of which the mutation in the mitochondrial DNA is one of the primary factors. However, the molecular pathogenesis of mitochondrial diseases remains poorly understood due to lack of cell models. Patient-specific induced pluripotent stem cells (iPS cells or iPSCs) are originated from individuals suffering different diseases but carrying unchanged disease causing gene. Therefore, patient-specific iPS cells can be used as excellent cell models to elucidate the mechanisms underlying mitochondrial diseases. Here we present a detailed protocol for generating iPS cells from urine cells and fibroblasts for instance, as well as a series of characterizations.
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Acknowledgements
We thank Chris Wood of the College of Life Sciences, Zhejiang University for critical reading of the manuscript.
This work was supported by National Basic Research Program of China (2014CB943001, 2012CB966804), National Natural Science Foundation of China (30971599), Natural Science Foundation of Zhejiang Province (LY14C060004), Program for New Century Excellent Talents in University (NCET-06-0526).
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Zhang, X. et al. (2014). Mitochondrial Disease-Specific Induced Pluripotent Stem Cell Models: Generation and Characterization. In: Nagy, A., Turksen, K. (eds) Patient-Specific Induced Pluripotent Stem Cell Models. Methods in Molecular Biology, vol 1353. Humana Press, New York, NY. https://doi.org/10.1007/7651_2014_195
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DOI: https://doi.org/10.1007/7651_2014_195
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