title: Generation and Characterization of Induced Pluripotent Stem Cells from Patients with mtDNA Mutations.
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.
authors.affiliation: Research Program of Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.|A.I.Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland.
authors.forename: Riikka H
authors.initials: RH
authors.lastname: Hämäläinen
authors.affiliation: Research Program of Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland. anu.wartiovaara@helsinki.fi.|Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland. anu.wartiovaara@helsinki.fi.|Neuroscience Centre, University of Helsinki, Helsinki, Finland. anu.wartiovaara@helsinki.fi.
authors.forename: Anu
authors.initials: A
authors.lastname: Suomalainen
mesh_terms: D000818:Animals; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D056915:DNA Copy Number Variations; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism / Q000473:pathology; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000378:metabolism* / Q000473:pathology; D051379:Mice; D008928:Mitochondria / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000378:metabolism; D008957:Models, Genetic; D009154:Mutation; D057285:Precision Medicine; D061251:Primary Cell Culture
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins
keywords: Disease modeling; Human induced pluripotent stem cells; Mitochondria; Mitochondrial disease; Reprogramming; iPSc; mtDNA