AI Article Synopsis
- The PLN R14del mutation is linked to arrhythmogenic right ventricular dysplasia (ARVD/C), a heart condition causing arrhythmias and abnormalities in the right ventricle.
- This mutation results from a deletion of three nucleotides (AGA), leading to the loss of the amino acid arginine at position 14, which negatively impacts calcium release regulation.
- The study introduces two induced pluripotent stem cell (iPSC) lines with this mutation, demonstrating normal characteristics and the potential for investigating the disease’s mechanisms.
Article 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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9476586 | PMC |
| http://dx.doi.org/10.1016/j.scr.2022.102834 | DOI Listing |
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