Generation of a biallelic NRAP-knockout mutant from a human iPSC line
Cardiomyopathies, a leading cause of mortality, are associated with dysfunctional intercalated discs, which connect neighbouring cardiomyocytes and ensure proper contractility. In human cardiac diseases, loss-of-function mutations of the intercalated disc-associated protein Nebulin-Related Anchoring Protein (NRAP) have been reported. NRAP plays a crucial role in myofibril assembly and mechanotransduction, however, its regulatory functions remain unclear. To investigate the effects of NRAP loss-of-function in cardiac disease, a human induced pluripotent stem cell (hiPSC) line was generated carrying a biallelic NRAP-knockout (KO) using the CRISPR-Cas9 technology. Control and mutant cell lines were assessed for karyotype integrity, pluripotency, off-target effects, mycoplasma contamination, and differentiation into ectoderm, mesoderm, and endoderm. This hiPSC line provides a valuable tool to study how NRAP modulates cardiac function and contributes to disease progression.
Authors
- Friederike Cuello (ORCID: https://orcid.org/0000-0003-1612-1715)
- Ellen Orthey
- Janice Raabe
- Elisabeth Ehler (ORCID: https://orcid.org/0000-0001-5646-5964)
- Sigrid Fuchs
- Angelika Piasecki
- Elisabeth Krämer
- Vanessa Lewandowski
- Alexandra Hammerschmidt
Institutions
- Universität Hamburg (DE)
- University Medical Center Hamburg-Eppendorf (DE)
- King's College School (GB)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-09-04
- DOI
- https://doi.org/10.1016/j.scr.2025.103829
- Citations
- 1
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.39