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

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

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

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.

Original languageEnglish
Article number102691
JournalStem Cell Research
Volume60
DOIs
StatePublished - Apr 2022

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