Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene
Human dermal fibroblasts from a Leigh Syndrome (LS) patient harboring the heterozygous NDUFS1 R557X/D618N compound mutation were reprogrammed to generate integration-free induced pluripotent stem cells (iPSCs). The full characterization of IUFi002-A-iPSCs demonstrated that the line is free of exogen...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506122003208 |
| _version_ | 1828288796168290304 |
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| author | Onofrio Valente Jochen Dobner Haribaskar Ramachandran Barbara Hildebrandt Felix Distelmaier Natascia Ventura Andrea Rossi |
| author_facet | Onofrio Valente Jochen Dobner Haribaskar Ramachandran Barbara Hildebrandt Felix Distelmaier Natascia Ventura Andrea Rossi |
| author_sort | Onofrio Valente |
| collection | DOAJ |
| description | Human dermal fibroblasts from a Leigh Syndrome (LS) patient harboring the heterozygous NDUFS1 R557X/D618N compound mutation were reprogrammed to generate integration-free induced pluripotent stem cells (iPSCs). The full characterization of IUFi002-A-iPSCs demonstrated that the line is free of exogenous reprogramming genes and maintains the genomic integrity. IUFi002-A-iPSCs' pluripotency was confirmed by the expression of pluripotency markers and embryoid body-based differentiation into cell types representative of each of the three germ layers. The generated iPSC line provides a powerful tool to investigate LS and analyze the molecular mechanisms underlying NDUFS1 mutations-induced pathology. |
| first_indexed | 2024-04-13T10:09:59Z |
| format | Article |
| id | doaj.art-96b7f89aed474bd8a205a7951aff6680 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-04-13T10:09:59Z |
| publishDate | 2022-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-96b7f89aed474bd8a205a7951aff66802022-12-22T02:50:57ZengElsevierStem Cell Research1873-50612022-12-0165102971Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 geneOnofrio Valente0Jochen Dobner1Haribaskar Ramachandran2Barbara Hildebrandt3Felix Distelmaier4Natascia Ventura5Andrea Rossi6IUF-Leibniz Research Institute for Environmental Medicine, Düsseldorf, GermanyIUF-Leibniz Research Institute for Environmental Medicine, Düsseldorf, GermanyIUF-Leibniz Research Institute for Environmental Medicine, Düsseldorf, GermanyInstitute of Human Genetics, Medical Faculty, Heinrich-Heine-University Düsseldorf, Düsseldorf, GermanyDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, GermanyIUF-Leibniz Research Institute for Environmental Medicine, Düsseldorf, Germany; Institute of Clinical Chemistry and Laboratory Diagnostic, Medical Faculty, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany; Corresponding authors at: Institute of Clinical Chemistry and Laboratory Diagnostic, Medical Faculty, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany (N. Ventura) and IUF-Leibniz Research Institute for Environmental Medicine, Düsseldorf, Germany (A. Rossi)IUF-Leibniz Research Institute for Environmental Medicine, Düsseldorf, Germany; Corresponding authors at: Institute of Clinical Chemistry and Laboratory Diagnostic, Medical Faculty, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany (N. Ventura) and IUF-Leibniz Research Institute for Environmental Medicine, Düsseldorf, Germany (A. Rossi)Human dermal fibroblasts from a Leigh Syndrome (LS) patient harboring the heterozygous NDUFS1 R557X/D618N compound mutation were reprogrammed to generate integration-free induced pluripotent stem cells (iPSCs). The full characterization of IUFi002-A-iPSCs demonstrated that the line is free of exogenous reprogramming genes and maintains the genomic integrity. IUFi002-A-iPSCs' pluripotency was confirmed by the expression of pluripotency markers and embryoid body-based differentiation into cell types representative of each of the three germ layers. The generated iPSC line provides a powerful tool to investigate LS and analyze the molecular mechanisms underlying NDUFS1 mutations-induced pathology.http://www.sciencedirect.com/science/article/pii/S1873506122003208 |
| spellingShingle | Onofrio Valente Jochen Dobner Haribaskar Ramachandran Barbara Hildebrandt Felix Distelmaier Natascia Ventura Andrea Rossi Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene Stem Cell Research |
| title | Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene |
| title_full | Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene |
| title_fullStr | Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene |
| title_full_unstemmed | Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene |
| title_short | Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene |
| title_sort | generation of an induced pluripotent stem cell line iufi002 a from a leigh syndrome patient carrying mutations in the ndufs1 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506122003208 |
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