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


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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Lahm H, Heinrich P, Zierler E, Dzilic E, Neb I, Luzius T, Doppler SA, Schneider S, Lange R, Krane M, Dreßen M
Journal Stem cell research
Publication Date 2022 Apr;60:102691
PubMed 35121196
DOI 10.1016/j.scr.2022.102691

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