Generation of human induced pluripotent stem cell (hiPSC) lines (UKMi009-A and UKMi011-A) harboring a homozygous and heterozygous HCN4 variant from a family with inherited sinus node dysfunction (SND)
HCN4, as the predominant pacemaker current (I<sub>f</sub>) in mammalian hearts, encodes the potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 driving spontaneous cardiac rhythmicity. Particularly expressed in sinoatrial cells, I<sub>f</sub> channels are main heart rate regulators. Here, we generated two hiPSC lines from a consanguineous family with SND where the HCN4 variant was either present in heterozygous or homozygous state. Generated hiPSCs enable further cardiomyocyte cell differentiation to provide unique patient-derived SND in-vitro disease models in a gene-dose dependent manner. Both cell lines exhibited normal karyotype, cell morphology, hiPSC marker expression, and differentiation into all three germ layers, confirmed by immunofluorescence staining.
Authors
- Marielle Vennemann (ORCID: https://orcid.org/0000-0001-6180-7666)
- Jassin Hamidi
- Eric Schulze‐Bahr (ORCID: https://orcid.org/0000-0001-6884-2501)
- Patrice Bouvagnet (ORCID: https://orcid.org/0000-0001-7583-0533)
- Sven Dittmann (ORCID: https://orcid.org/0000-0002-2495-711X)
- Elisabeth Krämer
- Andreas Unger
Institutions
- Universität Hamburg (DE)
- University Hospital Münster (DE)
- University Medical Center Hamburg-Eppendorf (DE)
- Centre Hospitalier Universitaire de Martinique (MQ)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-05-20
- DOI
- https://doi.org/10.1016/j.scr.2025.103740
- Primary Topic
- Pluripotent Stem Cells Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fondation Leducq