Author

Cynthia A. James

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Open access Sep 2026

Generation of an induced pluripotent stem cell line, JHUi010-A, from an arrhythmogenic cardiomyopathy patient harboring pathogenic DSG2 variant c.2358delA.

We generated a human induced pluripotent stem cell (hiPSC) clonal line, JHUi010-A, from a 48-year-old female diagnosed with arrhythmogenic cardiomyopathy (ACM) carrying a heterozygous DSG2 c.2358delA variant using Sendai virus vectors expressing the Yamanaka factors. The line exhibits a normal karyotype, expresses stem...

Christianne J. Chua, D. Disilvestre, Adriana Blazeski et al. · Stem Cell Research · 0 citations

Open access Jul 2026

Damaging RBM20 E-rich domain variants are not rescued by gene replacement

The data indicate that pathogenic E-rich domain variants reduce RBM20 protein abundance, but that their mechanism is unlikely to be explained by haploinsufficiency alone.

Bai Fang, Kaiser Chua, Daniel Y. Li et al. · bioRxiv · 0 citations