Dokument: CRISPR/Cas9-mediated editing of COQ4 in induced pluripotent stem cells: A model for investigating COQ4-associated human coenzyme Q10 deficiency
| Titel: | CRISPR/Cas9-mediated editing of COQ4 in induced pluripotent stem cells: A model for investigating COQ4-associated human coenzyme Q10 deficiency | |||||||
| URL für Lesezeichen: | https://docserv.uni-duesseldorf.de/servlets/DocumentServlet?id=70807 | |||||||
| URN (NBN): | urn:nbn:de:hbz:061-20250918-110536-0 | |||||||
| Kollektion: | Publikationen | |||||||
| Sprache: | Englisch | |||||||
| Dokumententyp: | Wissenschaftliche Texte » Artikel, Aufsatz | |||||||
| Medientyp: | Text | |||||||
| Autoren: | Herbrich, Sonja [Autor] Ramachandran, Haribaskar [Autor] Seibt, Annette [Autor] Tolle, Isabella [Autor] Zink, Annika [Autor] Prigione, Alessandro [Autor] Rossi, Andrea [Autor] Distelmaier, Felix [Autor] | |||||||
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| Beschreibung: | Pathogenic variants in the gene COQ4 cause primary coenzyme Q10 deficiency, which is associated with symptoms ranging from early epileptic encephalopathy up to adult-onset ataxia-spasticity spectrum disease. We genetically modified commercially available wild-type iPS cells by using a CRISPR/Cas9 approach to create heterozygous and homozygous isogenic cell lines carrying the disease-causing COQ4 variants c.458C > T, p.Ala153Val and c.437T > G, p.Phe146Cys, respectively. All iPSCs lines exhibited a normal cell morphology, expression of pluripotency markers, and the ability to differentiate into the three primary germ layers. The COQ4-deficient cell lines will provide a helpful tool to investigate the disease mechanism and to develop therapeutic strategies. | |||||||
| Rechtliche Vermerke: | Originalveröffentlichung:
Herbrich, S., Ramachandran, H., Seibt, A., Tolle, I., Zink, A., Prigione, A., Rossi, A., & Distelmaier, F. (2025). CRISPR/Cas9-mediated editing of COQ4 in induced pluripotent stem cells: A model for investigating COQ4-associated human coenzyme Q10 deficiency. Stem Cell Research, 88, Article 103825. https://doi.org/10.1016/j.scr.2025.103825 | |||||||
| Lizenz: |  Dieses Werk ist lizenziert unter einer Creative Commons Namensnennung 4.0 International Lizenz | |||||||
| Fachbereich / Einrichtung: | Medizinische Fakultät | |||||||
| Dokument erstellt am: | 18.09.2025 | |||||||
| Dateien geändert am: | 18.09.2025 |
