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- Dokumenttyp:
- Journal Article; Research Support, Non-U.S. Gov't
- Autor(en):
- Lahm, Harald; Heinrich, Paul; Zierler, Elisabeth; Dzilic, Elda; Neb, Irina; Luzius, Tatjana; Doppler, Stefanie A; Schneider, Stephanie; Lange, Rüdiger; Krane, Markus; Dreßen, Martina
- Titel:
- Generation of a CRISPR/Cas edited human induced pluripotent stem cell line DHMi005-A-1 carrying a patient-specific disease-causing point mutation in the TBX5 gene.
- Abstract:
- A number of mutations in the human TBX5 gene have been described which cause Holt-Oram syndrome, a severe congenital disease associated with abnormalities in heart and upper limb development. We have used a prime-editing approach to introduce a patient-specific disease-causing TBX5 mutation (c.920_C > A) into an induced pluripotent stem cell (iPSC) line from a healthy donor. The resulting iPSC line provides a powerful tool to identify and analyze the biological and molecular impact of this speci... »
- Zeitschriftentitel:
- Stem Cell Res
- Jahr:
- 2022
- Band / Volume:
- 60
- Volltext / DOI:
- doi:10.1016/j.scr.2022.102691
- PubMed:
- http://view.ncbi.nlm.nih.gov/pubmed/35121196
- Print-ISSN:
- 1873-5061
- TUM Einrichtung:
- Klinik für Herz- und Gefäßchirurgie (Prof. Lange)
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