Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9
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...
| Published in: | Stem Cell Research |
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| Main Authors: | , , , , , , , , , , , |
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-04-01
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124000527 |
| _version_ | 1850134450330927104 |
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| author | Sandra Ratnavadivel Joline Dammeier Anna Gaertner Marcelo A. Szymanski de Toledo Martin Zenke Jan Gummert Torsten Bloch Rasmussen Nora Klinke Kai Jürgens Heiko Meyer Achim Paululat Hendrik Milting |
| author_facet | Sandra Ratnavadivel Joline Dammeier Anna Gaertner Marcelo A. Szymanski de Toledo Martin Zenke Jan Gummert Torsten Bloch Rasmussen Nora Klinke Kai Jürgens Heiko Meyer Achim Paululat Hendrik Milting |
| author_sort | Sandra Ratnavadivel |
| collection | DOAJ |
| container_title | Stem Cell Research |
| description | 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. |
| format | Article |
| id | doaj-art-27366aabbbcd488c818d9ec778f6ef6a |
| institution | Directory of Open Access Journals |
| issn | 1873-5061 |
| language | English |
| publishDate | 2024-04-01 |
| publisher | Elsevier |
| record_format | Article |
| spelling | doaj-art-27366aabbbcd488c818d9ec778f6ef6a2025-08-19T23:51:38ZengElsevierStem Cell Research1873-50612024-04-017610335410.1016/j.scr.2024.103354Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9Sandra Ratnavadivel0Joline Dammeier1Anna Gaertner2Marcelo A. Szymanski de Toledo3Martin Zenke4Jan Gummert5Torsten Bloch Rasmussen6Nora Klinke7Kai Jürgens8Heiko Meyer9Achim Paululat10Hendrik Milting11Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, GermanyErich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, GermanyErich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, GermanyInstitute 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, GermanyInstitute 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, GermanyErich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, GermanyDepartment of Cardiology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, DK-8200 Aarhus N, DenmarkFaculty of Biology and Chemistry, Zoology and Developmental Biology, Osnabrück University, Barbarastraße 11, 49076 Osnabrück, GermanyFaculty of Biology and Chemistry, Zoology and Developmental Biology, Osnabrück University, Barbarastraße 11, 49076 Osnabrück, GermanyFaculty of Biology and Chemistry, Zoology and Developmental Biology, Osnabrück University, Barbarastraße 11, 49076 Osnabrück, GermanyFaculty of Biology and Chemistry, Zoology and Developmental Biology, Osnabrück University, Barbarastraße 11, 49076 Osnabrück, GermanyErich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, Germany; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1873506124000527 |
| spellingShingle | Sandra Ratnavadivel Joline Dammeier Anna Gaertner Marcelo A. Szymanski de Toledo Martin Zenke Jan Gummert Torsten Bloch Rasmussen Nora Klinke Kai Jürgens Heiko Meyer Achim Paululat Hendrik Milting Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9 |
| title | Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9 |
| title_full | Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9 |
| title_fullStr | Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9 |
| title_full_unstemmed | Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9 |
| title_short | Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9 |
| title_sort | generation of a tmem43 knockout human induced pluripotent stem cell line hdzi003 a 1 using crispr cas9 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124000527 |
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