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- Document type:
- Journal Article; Research Support, Non-U.S. Gov't
- Author(s):
- Lahm, H; Stieglbauer, S; Neb, I; Doppler, S; Schneider, S; Dzilic, E; Lange, R; Krane, M; Dreßen, M
- Title:
- 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.
- Abstract:
- 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 i... »
- Journal title abbreviation:
- Stem Cell Res
- Year:
- 2023
- Journal volume:
- 69
- Fulltext / DOI:
- doi:10.1016/j.scr.2023.103123
- Pubmed ID:
- http://view.ncbi.nlm.nih.gov/pubmed/37210946
- Print-ISSN:
- 1873-5061
- TUM Institution:
- 608; Klinik für Herz- und Gefäßchirurgie (DHM) (Prof. Lange)
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