Patient-derived stem cell line UKMi005-A (hiPSC) harboring a non-synonymous heterozygous KCNJ5 gene variant
A published heterozygous gain-of-function variant in the KCNJ5 gene (p.Trp101Cys) encoding the G-protein-activated inward-rectifier potassium channel 4 subunit of the IK,ACh channel is associated with human sinus node dysfunction (SND). Differentiated hiPSC-cardiomyocytes may serve as an in-vitro mo...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2023-12-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S187350612300209X |
| _version_ | 1797401774250786816 |
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| author | Anne Kayser Sven Dittmann Andreas van Impel Tomo Šarić Eric Schulze-Bahr |
| author_facet | Anne Kayser Sven Dittmann Andreas van Impel Tomo Šarić Eric Schulze-Bahr |
| author_sort | Anne Kayser |
| collection | DOAJ |
| description | A published heterozygous gain-of-function variant in the KCNJ5 gene (p.Trp101Cys) encoding the G-protein-activated inward-rectifier potassium channel 4 subunit of the IK,ACh channel is associated with human sinus node dysfunction (SND). Differentiated hiPSC-cardiomyocytes may serve as an in-vitro model to study SND and to develop pharmacological rescue strategies. Therefore, a mutant hiPSCs line from patient-derived peripheral blood mononuclear cells (PBMCs) were reprogrammed with CytoTune-iPS 2.0 Sendai Reprogramming Kit. The hiPSC line (KCNJ5 K8) showed a regular karyotype, a typical hiPSC morphology, expressed pluripotency-associated markers in immunofluorescence stainings and RT-qPCR analysis. The ability for differentiation into all three germ layers was shown. |
| first_indexed | 2024-03-09T02:15:00Z |
| format | Article |
| id | doaj.art-ae2841dc037d4143b71111b0eea9de5e |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-03-09T02:15:00Z |
| publishDate | 2023-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-ae2841dc037d4143b71111b0eea9de5e2023-12-07T05:28:15ZengElsevierStem Cell Research1873-50612023-12-0173103223Patient-derived stem cell line UKMi005-A (hiPSC) harboring a non-synonymous heterozygous KCNJ5 gene variantAnne Kayser0Sven Dittmann1Andreas van Impel2Tomo Šarić3Eric Schulze-Bahr4Institute for Genetics of Heart Diseases, University Hospital Münster, Münster, GermanyInstitute for Genetics of Heart Diseases, University Hospital Münster, Münster, Germany; Corresponding author.Institute of Cardiovascular Organogenesis and Regeneration, WWU Muenster, Muenster, GermanyUniversity of Cologne, Faculty of Medicine and University Hospital Cologne, Center for Physiology and Pathophysiology, Institute of Neurophysiology, Cologne, GermanyInstitute for Genetics of Heart Diseases, University Hospital Münster, Münster, Germany; Member of the European Reference Network for rare, low prevalence and/or complex diseases of the heart: ERN GUARD-Heart, The NetherlandsA published heterozygous gain-of-function variant in the KCNJ5 gene (p.Trp101Cys) encoding the G-protein-activated inward-rectifier potassium channel 4 subunit of the IK,ACh channel is associated with human sinus node dysfunction (SND). Differentiated hiPSC-cardiomyocytes may serve as an in-vitro model to study SND and to develop pharmacological rescue strategies. Therefore, a mutant hiPSCs line from patient-derived peripheral blood mononuclear cells (PBMCs) were reprogrammed with CytoTune-iPS 2.0 Sendai Reprogramming Kit. The hiPSC line (KCNJ5 K8) showed a regular karyotype, a typical hiPSC morphology, expressed pluripotency-associated markers in immunofluorescence stainings and RT-qPCR analysis. The ability for differentiation into all three germ layers was shown.http://www.sciencedirect.com/science/article/pii/S187350612300209X |
| spellingShingle | Anne Kayser Sven Dittmann Andreas van Impel Tomo Šarić Eric Schulze-Bahr Patient-derived stem cell line UKMi005-A (hiPSC) harboring a non-synonymous heterozygous KCNJ5 gene variant Stem Cell Research |
| title | Patient-derived stem cell line UKMi005-A (hiPSC) harboring a non-synonymous heterozygous KCNJ5 gene variant |
| title_full | Patient-derived stem cell line UKMi005-A (hiPSC) harboring a non-synonymous heterozygous KCNJ5 gene variant |
| title_fullStr | Patient-derived stem cell line UKMi005-A (hiPSC) harboring a non-synonymous heterozygous KCNJ5 gene variant |
| title_full_unstemmed | Patient-derived stem cell line UKMi005-A (hiPSC) harboring a non-synonymous heterozygous KCNJ5 gene variant |
| title_short | Patient-derived stem cell line UKMi005-A (hiPSC) harboring a non-synonymous heterozygous KCNJ5 gene variant |
| title_sort | patient derived stem cell line ukmi005 a hipsc harboring a non synonymous heterozygous kcnj5 gene variant |
| url | http://www.sciencedirect.com/science/article/pii/S187350612300209X |
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