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

Stem cell research - 1 Apr 2024

Ratnavadivel Sandra, Dammeier Joline, Gaertner Anna, de Toledo Marcelo A Szymanski, Zenke Martin, Gummert Jan, Bloch Rasmussen Torsten, Klinke Nora, Jürgens Kai, Meyer Heiko, Paululat Achim, Milting Hendrik

Abstract excerpt

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...

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PMID: 38430734
DOI: 10.1016/j.scr.2024.103354

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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