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
Summary
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 |