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.

Lahm, Harald; Heinrich, Paul; Zierler, Elisabeth; Dzilic, Elda; Neb, Irina; Luzius, Tatjana; Doppler, Stefanie A; Schneider, Stephanie; Lange, Rüdiger; Krane, Markus; Dreßen, Martina

doi:10.1016/j.scr.2022.102691

2022

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Document type:: Journal Article; Research Support, Non-U.S. Gov't
Author(s):: Lahm, Harald; Heinrich, Paul; Zierler, Elisabeth; Dzilic, Elda; Neb, Irina; Luzius, Tatjana; Doppler, Stefanie A; Schneider, Stephanie; Lange, Rüdiger; Krane, Markus; Dreßen, Martina
Title:: 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 specific TBX5 mutation in comparison to the isogenic control iPSC line during cardiac development. «
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... »
Journal title abbreviation:: Stem Cell Res
Year:: 2022
Journal volume:: 60
Fulltext / DOI:: doi:10.1016/j.scr.2022.102691
Pubmed ID:: http://view.ncbi.nlm.nih.gov/pubmed/35121196
Print-ISSN:: 1873-5061
TUM Institution:: Klinik für Herz- und Gefäßchirurgie (Prof. Lange)
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mediaTUM Gesamtbestand Einrichtungen Schools TUM School of Medicine and Health Departments Clinical Medicine Lehr- und Forschungskooperationen mit den Kliniken und Instituten am Deutschen Herzzentrum Klinik für Herz- und Gefäßchirurgie (DHM) (Prof. Krane)2022