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Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9.

Authors :
Ratnavadivel S
Dammeier J
Gaertner A
de Toledo MAS
Zenke M
Gummert J
Bloch Rasmussen T
Klinke N
Jürgens K
Meyer H
Paululat A
Milting H
Source :
Stem cell research [Stem Cell Res] 2024 Apr; Vol. 76, pp. 103354. Date of Electronic Publication: 2024 Feb 17.
Publication Year :
2024

Abstract

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.<br />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.<br /> (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

Details

Language :
English
ISSN :
1876-7753
Volume :
76
Database :
MEDLINE
Journal :
Stem cell research
Publication Type :
Academic Journal
Accession number :
38430734
Full Text :
https://doi.org/10.1016/j.scr.2024.103354