Key result
Patient-specific RBM20 iPSCs and CRISPR/Cas9-edited isogenic control lines maintained full pluripotency, genomic integrity, and successfully differentiated into pure cardiomyocytes.
Why the study?
Mutations in the RS domain of RBM20 cause different cardiomyopathies, requiring stem cell models to study the pathogenesis of human RBM20-mediated cardiac disease.
Population
One dilated cardiomyopathy patient harboring the heterozygous RBM20 mutation p.R634W
Comparison
Patient-specific RBM20 iPSCs vs CRISPR/Cas9-modified isogenic control line
Design
In vitro stem cell and gene-editing study
Authors
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Patient-specific RBM20 iPSC lines with isogenic controls provide a new disease model; leaves open utility for mechanistic or therapeutic studies.
The generation of patient-specific iPSCs and a CRISPR/Cas9-corrected isogenic control line provides a valuable in vitro model for studying the pathogenesis of RBM20-mediated dilated cardiomyopathy.
Rebs et al. (2020) studied Dilated cardiomyopathy (n=1). Generation of iPSCs and CRISPR/Cas9 genome editing vs. Isogenic control line was evaluated on Pluripotency, genomic integrity, and in vitro differentiation capacity. Patient-specific RBM20 iPSCs and CRISPR/Cas9-edited isogenic control lines maintained full pluripotency, genomic integrity, and successfully differentiated into pure cardiomyocytes.
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