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The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs
The generation of inducible pluripotent stem cells (iPSCs) is a revolutionary technique allowing production of pluripotent patient-specific cell lines used for disease modeling, drug screening, and cell therapy. Integrity of nuclear DNA (nDNA) is mandatory to allow iPSCs utilization, while quality c...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8365099/ https://www.ncbi.nlm.nih.gov/pubmed/34329598 http://dx.doi.org/10.1016/j.stemcr.2021.06.016 |
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author | Palombo, Flavia Peron, Camille Caporali, Leonardo Iannielli, Angelo Maresca, Alessandra Di Meo, Ivano Fiorini, Claudio Segnali, Alice Sciacca, Francesca L. Rizzo, Ambra Levi, Sonia Suomalainen, Anu Prigione, Alessandro Broccoli, Vania Carelli, Valerio Tiranti, Valeria |
author_facet | Palombo, Flavia Peron, Camille Caporali, Leonardo Iannielli, Angelo Maresca, Alessandra Di Meo, Ivano Fiorini, Claudio Segnali, Alice Sciacca, Francesca L. Rizzo, Ambra Levi, Sonia Suomalainen, Anu Prigione, Alessandro Broccoli, Vania Carelli, Valerio Tiranti, Valeria |
author_sort | Palombo, Flavia |
collection | PubMed |
description | The generation of inducible pluripotent stem cells (iPSCs) is a revolutionary technique allowing production of pluripotent patient-specific cell lines used for disease modeling, drug screening, and cell therapy. Integrity of nuclear DNA (nDNA) is mandatory to allow iPSCs utilization, while quality control of mitochondrial DNA (mtDNA) is rarely included in the iPSCs validation process. In this study, we performed mtDNA deep sequencing during the transition from parental fibroblasts to reprogrammed iPSC and to differentiated neuronal precursor cells (NPCs) obtained from controls and patients affected by mitochondrial disorders. At each step, mtDNA variants, including those potentially pathogenic, fluctuate between emerging and disappearing, and some having functional implications. We strongly recommend including mtDNA analysis as an unavoidable assay to obtain fully certified usable iPSCs and NPCs. |
format | Online Article Text |
id | pubmed-8365099 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-83650992021-08-23 The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs Palombo, Flavia Peron, Camille Caporali, Leonardo Iannielli, Angelo Maresca, Alessandra Di Meo, Ivano Fiorini, Claudio Segnali, Alice Sciacca, Francesca L. Rizzo, Ambra Levi, Sonia Suomalainen, Anu Prigione, Alessandro Broccoli, Vania Carelli, Valerio Tiranti, Valeria Stem Cell Reports Article The generation of inducible pluripotent stem cells (iPSCs) is a revolutionary technique allowing production of pluripotent patient-specific cell lines used for disease modeling, drug screening, and cell therapy. Integrity of nuclear DNA (nDNA) is mandatory to allow iPSCs utilization, while quality control of mitochondrial DNA (mtDNA) is rarely included in the iPSCs validation process. In this study, we performed mtDNA deep sequencing during the transition from parental fibroblasts to reprogrammed iPSC and to differentiated neuronal precursor cells (NPCs) obtained from controls and patients affected by mitochondrial disorders. At each step, mtDNA variants, including those potentially pathogenic, fluctuate between emerging and disappearing, and some having functional implications. We strongly recommend including mtDNA analysis as an unavoidable assay to obtain fully certified usable iPSCs and NPCs. Elsevier 2021-07-29 /pmc/articles/PMC8365099/ /pubmed/34329598 http://dx.doi.org/10.1016/j.stemcr.2021.06.016 Text en © 2021 The Authors https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Palombo, Flavia Peron, Camille Caporali, Leonardo Iannielli, Angelo Maresca, Alessandra Di Meo, Ivano Fiorini, Claudio Segnali, Alice Sciacca, Francesca L. Rizzo, Ambra Levi, Sonia Suomalainen, Anu Prigione, Alessandro Broccoli, Vania Carelli, Valerio Tiranti, Valeria The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs |
title | The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs |
title_full | The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs |
title_fullStr | The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs |
title_full_unstemmed | The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs |
title_short | The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs |
title_sort | relevance of mitochondrial dna variants fluctuation during reprogramming and neuronal differentiation of human ipscs |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8365099/ https://www.ncbi.nlm.nih.gov/pubmed/34329598 http://dx.doi.org/10.1016/j.stemcr.2021.06.016 |
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