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.
Keywords:
Characterization; Fibroblasts; Induced pluripotent stem cells; Urine cells.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Biomarkers / metabolism
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Cell Differentiation / drug effects
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Cellular Reprogramming*
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DNA, Mitochondrial / genetics*
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Dermis / cytology
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Dermis / metabolism
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Embryoid Bodies / cytology
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Embryoid Bodies / drug effects
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Embryoid Bodies / metabolism
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Feeder Cells / cytology
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Fibroblasts / cytology*
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Fibroblasts / drug effects
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Fibroblasts / metabolism
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Gene Expression
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Genetic Vectors / chemistry
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Genetic Vectors / metabolism
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Humans
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Induced Pluripotent Stem Cells / cytology*
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Induced Pluripotent Stem Cells / drug effects
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Induced Pluripotent Stem Cells / metabolism
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Intercellular Signaling Peptides and Proteins / pharmacology
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Mice
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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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Neurons / cytology*
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Neurons / drug effects
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Neurons / metabolism
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Primary Cell Culture
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Retroviridae / genetics
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Teratoma / genetics
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Teratoma / metabolism
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Teratoma / pathology
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Urine / cytology
Substances
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Biomarkers
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DNA, Mitochondrial
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Intercellular Signaling Peptides and Proteins