Article
Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C.
Stem cell research - 1 Aug 2022
Vera Carlos D, Manhas Amit, Shenoy Sushma P, Wheeler Matthew T, Sallam Karim, Wu Joseph C
Abstract excerpt
The phospholamban (PLN) R14del mutation is associated with arrhythmogenic right ventricular dysplasia (ARVD/C). ARVD/C is a cardiac disease characterized by arrhythmias and structural abnormalities in the right ventricle. Because PLN is a regulator of calcium release, this mutation can have deleterious effects on tissue integrity and contraction. This mutation is a trinucleotide (AGA) deletion that leads to an...
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