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

Autor: Harald Lahm, Elda Dzilic, Irina Neb, Stefanie A. Doppler, Stephanie Schneider, Rüdiger Lange, Markus Krane, Martina Dreßen
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Stem Cell Research, Vol 70, Iss , Pp 103126- (2023)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2023.103126
Popis: 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.
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