Dokument: Generation of an iPSC line IUFi004-A-13 with homozygous NDUFS1 mutation for the study of Leigh syndrome
| Titel: | Generation of an iPSC line IUFi004-A-13 with homozygous NDUFS1 mutation for the study of Leigh syndrome | |||||||
| URL für Lesezeichen: | https://docserv.uni-duesseldorf.de/servlets/DocumentServlet?id=73369 | |||||||
| URN (NBN): | urn:nbn:de:hbz:061-20260526-110052-9 | |||||||
| Kollektion: | Publikationen | |||||||
| Sprache: | Englisch | |||||||
| Dokumententyp: | Wissenschaftliche Texte » Artikel, Aufsatz | |||||||
| Medientyp: | Text | |||||||
| Autoren: | Jerred, Caleb [Autor] Ramachandran, Haribaskar [Autor] Hildebrandt, Barbara [Autor] Zink, Annika [Autor] Ventura, Natascia [Autor] Rossi, Andrea [Autor] Prigione, Alessandro [Autor] | |||||||
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| Beschreibung: | NDUFS1 is a critical component of mitochondrial respiratory chain Complex I (CI). Pathogenic variants of NDUFS1 can cause Leigh syndrome (LS), a severe pediatric mitochondrial disorder. To model NDUFS1-linked LS, we generated an iPSC line with homozygous missense mutations in exon 8 using CRISPR/Cas9. The cell line demonstrated typical morphology, expression of iPSC markers, ability to differentiate into all three germ layers, and genomic integrity. This model will enable the study of LS caused by CI in an isogenic context. | |||||||
| Rechtliche Vermerke: | Originalveröffentlichung:
Jerred, C., Ramachandran, H., Hildebrandt, B., Zink, A., Ventura, N., Rossi, A., & Prigione, A. (2026). Generation of an iPSC line IUFi004-A-13 with homozygous NDUFS1 mutation for the study of Leigh syndrome. Stem Cell Research, 94, Article 104002. https://doi.org/10.1016/j.scr.2026.104002 | |||||||
| Lizenz: |  Dieses Werk ist lizenziert unter einer Creative Commons Namensnennung 4.0 International Lizenz | |||||||
| Fachbereich / Einrichtung: | Medizinische Fakultät | |||||||
| Dokument erstellt am: | 26.05.2026 | |||||||
| Dateien geändert am: | 26.05.2026 |
