Abstract
Generation of induced pluripotent stem cells from patient cells has revolutionized disease modeling in recent years. One research area, where disease models have previously been scarce, is disorders with mutations in mitochondrial DNA. These are a common cause for human disease and often cause very tissue specific phenotypes with vast clinical heterogeneity. iPS technology has now opened up new possibilities for mechanistic studies of these diseases.
Keywords:
Disease modeling; Human induced pluripotent stem cells; Mitochondria; Mitochondrial disease; Reprogramming; iPSc; mtDNA.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Cell Differentiation
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Cell Line
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Cellular Reprogramming
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DNA Copy Number Variations
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DNA, Mitochondrial / genetics*
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DNA, Mitochondrial / metabolism
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Fibroblasts / metabolism
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Fibroblasts / pathology
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Humans
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Induced Pluripotent Stem Cells / metabolism*
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Induced Pluripotent Stem Cells / pathology
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Mice
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Mitochondria / genetics*
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Mitochondria / metabolism
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Mitochondria / pathology
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Mitochondrial Diseases / genetics*
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Mitochondrial Diseases / metabolism
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Mitochondrial Diseases / pathology
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Mitochondrial Proteins / genetics*
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Mitochondrial Proteins / metabolism
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Models, Genetic
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Mutation*
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Precision Medicine
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Primary Cell Culture
Substances
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DNA, Mitochondrial
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Mitochondrial Proteins