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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 by Harald Lahm; Elda Dzilic; Irina Neb; Stefanie A. Doppler; Stephanie Schneider; Rüdiger Lange; Markus Krane; Martina Dreßen is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is 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 about?

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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Author

Harald Lahm; Elda Dzilic; Irina Neb; Stefanie A. Doppler; Stephanie Schneider; Rüdiger Lange; Markus Krane; Martina Dreßen

Publisher

Elsevier BV

Published

2023

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)