Generation of three CRISPR/Cas9 edited human induced pluripotent stem cell lines (DHMi005-A-5, DHMi005-A-6 and DHMi005-A-7) carrying a Holt-Oram Syndrome patient-specific TBX5 mutation with known cardiac phenotype and a FLAG-tag after exon 9 of the TBX5 gene

• Published in: Stem cell research Vol. 69; p. 103123
• Main Authors: Lahm, H., Stieglbauer, S., Neb, I., Doppler, S., Schneider, S., Dzilic, E., Lange, R., Krane, M., Dreßen, M.
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01-06-2023; Elsevier
• Subjects: CRISPR-Cas Systems; Exons - genetics; Humans; Induced Pluripotent Stem Cells - metabolism; Mutation - genetics; Phenotype; T-Box Domain Proteins - genetics; T-Box Domain Proteins - metabolism; Transcription Factors - genetics; Transcription Factors - metabolism
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2023.103123

TBX5 is a transcription factor (TF) playing essential role during cardiogenesis. It is well known that TF mutations possibly result in non- or additional binding of the DNA due to conformational changes of the protein. We introduced a Holt-Oram Syndrome (HOS) patient-specific TBX5 mutation c.920_C > A heterozygously in a healthy induced pluripotent stell cell (iPSC) line. This TBX5 mutation results in conformational changes of the protein and displayed ventricular septal defects in the patient itself. Additionally we introduced a FLAG-tag on the TBX5 mutation-carrying allele. The resulting heterozygous TBX5-FLAG iPSC lines are a powerful tool to investigate altered TF activity bonding.