Generation of a FAM189A2/ENTREP1 knockout human induced pluripotent stem cell line using CRISPR/Cas9 technology
FAM189A2/ENTREP1 encodes a transmembrane protein, EREP1, ubiquitously expressed, with higher levels in thyroid gland, skeletal muscle, heart and glial cells, suggesting tissue-specific roles. It is regulated in various cancers and genetic studies suggested that it could be associated with cardiac and cardiometabolic diseases. EREP1 was reported to activate ITCH, an E3 ubiquitin ligase, involved in endosomal dynamics and protein trafficking. We generated by CRISPR/Cas9 technology a human induced pluripotent stem cells (hiPSCs) line carrying two compound heterozygous deletions leading to gene invalidation, with the aim of further exploring the poorly understood function of this protein.
Authors
- Sibylle Marteau
- Matthieu Hamlin
- Eric Villard (ORCID: https://orcid.org/0000-0001-9801-7297)
- Vincent Fontaine
- Takanori Aizawa (ORCID: https://orcid.org/0000-0001-5192-3962)
- Pascale Guicheney (ORCID: https://orcid.org/0000-0002-7663-2050)
- Laëtitia Duboscq-Bidot (ORCID: https://orcid.org/0000-0001-6279-1408)
Institutions
- Inserm (FR)
- Sorbonne Université (FR)
- Unité de recherche sur les maladies cardiovasculaires et métaboliques (FR)
- Fondation pour l’innovation en Cadiométabolisme et Nutrition (FR)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-10-17
- DOI
- https://doi.org/10.1016/j.scr.2025.103857
- Primary Topic
- Pluripotent Stem Cells Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00