title: Mitochondrial Disease-Specific Induced Pluripotent Stem Cell Models: Generation and Characterization.
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.
authors: Institute of Genetics, College of Life Sciences, Zhejiang University, 866 Yuhangtang Road, Hangzhou, Zhejiang, 310058, China.
authors: Xuan
authors: X
authors: Zhang
authors: Institute of Genetics, College of Life Sciences, Zhejiang University, 866 Yuhangtang Road, Hangzhou, Zhejiang, 310058, China.
authors: Shishi
authors: S
authors: Li
authors: Institute of Genetics, College of Life Sciences, Zhejiang University, 866 Yuhangtang Road, Hangzhou, Zhejiang, 310058, China.
authors: Wei
authors: W
authors: Yang
authors: Institute of Genetics, College of Life Sciences, Zhejiang University, 866 Yuhangtang Road, Hangzhou, Zhejiang, 310058, China.
authors: Huaye
authors: H
authors: Pan
authors: Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, 510530, China.
authors: Dajiang
authors: D
authors: Qin
authors: Institute of Genetics, College of Life Sciences, Zhejiang University, 866 Yuhangtang Road, Hangzhou, Zhejiang, 310058, China.
authors: Xufen
authors: X
authors: Zhu
authors: Institute of Genetics, College of Life Sciences, Zhejiang University, 866 Yuhangtang Road, Hangzhou, Zhejiang, 310058, China. qfyan@zju.edu.cn.
authors: Qingfeng
authors: Q
authors: Yan
mesh_terms: D000818:Animals; D015415:Biomarkers / Q000378:metabolism; D002454:Cell Differentiation / Q000187:drug effects; D065150:Cellular Reprogramming; D004272:DNA, Mitochondrial / Q000235:genetics*; D020405:Dermis / Q000166:cytology / Q000378:metabolism; D058732:Embryoid Bodies / Q000166:cytology / Q000187:drug effects / Q000378:metabolism; D061252:Feeder Cells / Q000166:cytology; D005347:Fibroblasts / Q000166:cytology* / Q000187:drug effects / Q000378:metabolism; D015870:Gene Expression; D005822:Genetic Vectors / Q000737:chemistry / Q000378:metabolism; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000187:drug effects / Q000378:metabolism; D036341:Intercellular Signaling Peptides and Proteins / Q000494:pharmacology; D051379:Mice; D008928:Mitochondria / Q000378:metabolism / Q000473:pathology; D028361:Mitochondrial Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D009474:Neurons / Q000166:cytology* / Q000187:drug effects / Q000378:metabolism; D061251:Primary Cell Culture; D012190:Retroviridae / Q000235:genetics; D013724:Teratoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D014556:Urine / Q000166:cytology
chemical_list: D015415:Biomarkers; D004272:DNA, Mitochondrial; D036341:Intercellular Signaling Peptides and Proteins
keywords: Characterization; Fibroblasts; Induced pluripotent stem cells; Urine cells