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Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology.
Rivera-Sánchez P, Søndergaard L, Wathikthinnakon M, B D Magnusson H, Frederiksen HR, Aabæk Hammer F, Taleb R, Christian Cassidy C, Tranholm Bruun M, Tümer Z, Holst B, Brasch-Andersen C, Møller RS, Freude K, Chandrasekaran A. Rivera-Sánchez P, et al. Among authors: frederiksen hr. Stem Cell Res. 2023 Sep;71:103193. doi: 10.1016/j.scr.2023.103193. Epub 2023 Aug 25. Stem Cell Res. 2023. PMID: 37651830 Free article.
The G213D variant in Nav1.5 alters sodium current and causes an arrhythmogenic phenotype resulting in a multifocal ectopic Purkinje-related premature contraction phenotype in human-induced pluripotent stem cell-derived cardiomyocytes.
Calloe K, Geryk M, Freude K, Treat JA, Vold VA, Frederiksen HRS, Broendberg AK, Frederiksen TC, Jensen HK, Cordeiro JM. Calloe K, et al. Among authors: frederiksen hrs. Europace. 2022 Dec 9;24(12):2015-2027. doi: 10.1093/europace/euac090. Europace. 2022. PMID: 35726875