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.

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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
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Generation of a biallelic NRAP-knockout mutant from a human iPSC line

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article

Generation of a biallelic NRAP-knockout mutant from a human iPSC line

Friederike Cuello, Ellen Orthey, Janice Raabe, Elisabeth Ehler, Sigrid Fuchs, Angelika Piasecki, Elisabeth Krämer, Vanessa Lewandowski, Alexandra Hammerschmidt
article en
1 citations

Abstract

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.

Stem Cell ResearchVol. 88
Universität Hamburg (DE), University Medical Center Hamburg-Eppendorf (DE), King's College School (GB)
Openalex Percentile: Top 15%
Cardiomyopathy and Myosin Studies
1.39
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