Correction of a deleterious TBX5 mutation in an induced pluripotent stem cell line (DHMi004-A-1) using a completely plasmid-free CRISPR/Cas 9 approach


TBX5 is a transcription factor which plays an essential role at different checkpoints during cardiac differentiation. However, regulatory pathways affected by TBX5 still remain ill-defined. We have applied the CRISPR/Cas9 technology using a completely plasmid-free approach to correct a heterozygous causative "loss-of function" TBX5 mutation in an iPSC line (DHMi004-A), that has been established from a patient suffering from Holt-Oram syndrome (HOS). This isogenic iPSC line, DHMi004-A-1, represents a powerful in vitro tool to dissect the regulatory pathways affected by TBX5 in HOS. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Lahm H, Dzilic E, Neb I, Doppler SA, Schneider S, Lange R, Krane M, Dreßen M
Journal Stem cell research
Publication Date 2023 Aug;70:103126
PubMed 37253295
DOI 10.1016/j.scr.2023.103126

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