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 (If) in mammalian hearts, encodes the potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 driving spontaneous cardiac rhythmicity. Particularly expressed in sinoatrial cells, If channels are main heart rate regulators. Here, we ge...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-08-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S187350612500090X |
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| author | Jassin Hamidi Sven Dittmann Elisabeth Krämer Andreas Unger Marielle Vennemann Patrice Bouvagnet Eric Schulze-Bahr |
| author_facet | Jassin Hamidi Sven Dittmann Elisabeth Krämer Andreas Unger Marielle Vennemann Patrice Bouvagnet Eric Schulze-Bahr |
| author_sort | Jassin Hamidi |
| collection | DOAJ |
| description | HCN4, as the predominant pacemaker current (If) in mammalian hearts, encodes the potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 driving spontaneous cardiac rhythmicity. Particularly expressed in sinoatrial cells, If 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. |
| format | Article |
| id | doaj-art-bd5ca20a7a6f4e6c918a390cdcd31fab |
| institution | DOAJ |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-bd5ca20a7a6f4e6c918a390cdcd31fab2025-08-20T03:10:46ZengElsevierStem Cell Research1873-50612025-08-018610374010.1016/j.scr.2025.103740Generation 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)Jassin Hamidi0Sven Dittmann1Elisabeth Krämer2Andreas Unger3Marielle Vennemann4Patrice Bouvagnet5Eric Schulze-Bahr6Institute for Genetics of Heart Diseases (IfGH), University Hospital Münster, Münster, Germany; Corresponding author.Institute for Genetics of Heart Diseases (IfGH), University Hospital Münster, Münster, GermanyDepartment of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, GermanyInstitute for Physiology II, University Hospital Münster, Münster, GermanyInstitute of Legal Medicine, Forensic Molecular Biology, University Hospital Münster, Münster, GermanyCPDP, Hôpital MFME, CHU de Martinique, BP632, 97200 Fort de France, FranceInstitute for Genetics of Heart Diseases (IfGH), University Hospital Münster, Münster, GermanyHCN4, as the predominant pacemaker current (If) in mammalian hearts, encodes the potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 driving spontaneous cardiac rhythmicity. Particularly expressed in sinoatrial cells, If 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.http://www.sciencedirect.com/science/article/pii/S187350612500090X |
| spellingShingle | Jassin Hamidi Sven Dittmann Elisabeth Krämer Andreas Unger Marielle Vennemann Patrice Bouvagnet Eric Schulze-Bahr 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) Stem Cell Research |
| title | 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) |
| title_full | 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) |
| title_fullStr | 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) |
| title_full_unstemmed | 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) |
| title_short | 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) |
| title_sort | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S187350612500090X |
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