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Updated: Sep 8, 2025

Rapid and Efficient Generation of Recombinant Human Pluripotent Stem Cells by Recombinase-mediated Cassette Exchange in the AAVS1 Locus
Published on: November 20, 2016
Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C
Carlos D Vera1, Amit Manhas1, Sushma P Shenoy1
1Stanford Cardiovascular Institute, Stanford University, School of Medicine, United States; Division of Cardiovascular Medicine, Stanford University, School of Medicine, United States.
Abstract:
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 arginine deletion at position 14 of the PLN structure. Here we show two lines carrying this mutation with typical iPSC morphology, pluripotency, karyotype, ability to differentiate into the three germ layers in vitro, and readily availability for studying pathological mechanisms or ARVD/C.
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