دورية أكاديمية
Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9.
| العنوان: | Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9. |
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| المؤلفون: | Ratnavadivel S; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, Germany., Dammeier J; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, Germany., Gaertner A; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, Germany., de Toledo MAS; Institute for Biomedical Engineering - Cell Biology, RWTH Aachen University Medical School, D-52074 Aachen, Pauwelstrasse 30, Germany; Helmholtz Institute for Biomedical Engineering, RWTH Aachen University, D-52074 Aachen, Pauwelstrasse 20, Germany; Department of Hematology, Oncology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University Hospital, Aachen, Germany; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Aachen, Germany., Zenke M; Institute for Biomedical Engineering - Cell Biology, RWTH Aachen University Medical School, D-52074 Aachen, Pauwelstrasse 30, Germany; Helmholtz Institute for Biomedical Engineering, RWTH Aachen University, D-52074 Aachen, Pauwelstrasse 20, Germany; Department of Hematology, Oncology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University Hospital, Aachen, Germany; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), Aachen, Germany., Gummert J; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, Germany., Bloch Rasmussen T; Department of Cardiology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, DK-8200 Aarhus N, Denmark., Klinke N; Faculty of Biology and Chemistry, Zoology and Developmental Biology, Osnabrück University, Barbarastraße 11, 49076 Osnabrück, Germany., Jürgens K; Faculty of Biology and Chemistry, Zoology and Developmental Biology, Osnabrück University, Barbarastraße 11, 49076 Osnabrück, Germany., Meyer H; Faculty of Biology and Chemistry, Zoology and Developmental Biology, Osnabrück University, Barbarastraße 11, 49076 Osnabrück, Germany., Paululat A; Faculty of Biology and Chemistry, Zoology and Developmental Biology, Osnabrück University, Barbarastraße 11, 49076 Osnabrück, Germany., Milting H; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, Germany. Electronic address: hmilting@hdz-nrw.de. |
| المصدر: | Stem cell research [Stem Cell Res] 2024 Apr; Vol. 76, pp. 103354. Date of Electronic Publication: 2024 Feb 17. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Kidlington, Oxford : Elsevier |
| مواضيع طبية MeSH: | Induced Pluripotent Stem Cells*/metabolism , Arrhythmogenic Right Ventricular Dysplasia*/genetics, Animals ; Humans ; CRISPR-Cas Systems/genetics ; Drosophila melanogaster/metabolism ; Mutation ; Membrane Proteins/genetics ; Membrane Proteins/metabolism |
| مستخلص: | TMEM43 (LUMA) is a ubiquitously expressed protein with unknown function. The protein is phylogenetically highly conserved and also found in Drosophila melanogaster (Klinke et al., 2022). TMEM43-p.S358L is a rare, fully penetrant mutation that leads to arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). To understand the function of the ARVC5-associated mutation it is first important to understand the function of the TMEM43 protein. Therefore, a TMEM43 knockout induced pluripotent stem cell (iPSC) line was generated using the CRISPR/Cas9 genome editing system. The resulting cell line had a deficiency of TMEM43 and showed normal morphology and a stable karyotype. The colonies were positive for pluripotency markers and could be differentiated into the three germ layers. Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.) |
| المشرفين على المادة: | 0 (TMEM43 protein, human) 0 (Membrane Proteins) |
| SCR Disease Name: | Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
| تواريخ الأحداث: | Date Created: 20240302 Date Completed: 20240325 Latest Revision: 20240325 |
| رمز التحديث: | 20240325 |
| DOI: | 10.1016/j.scr.2024.103354 |
| PMID: | 38430734 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1876-7753 |
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| DOI: | 10.1016/j.scr.2024.103354 |