Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C

Stem cell research

article

Carlos D. Vera¹  Amit Manhas¹  Sushma P. Shenoy¹  Matthew T. Wheeler¹  Karim Sallam¹  Joseph C. Wu¹ 

[1] Stanford Cardiovascular Institute, Stanford University, School of Medicine;Division of Cardiovascular Medicine, Stanford University, School of Medicine

关键词: Arrhythmogenic right ventricular dysplasia;    PLN;    Induced pluripotent stem cells;   

DOI  :  10.1016/j.scr.2022.102834

学科分类：生理学

来源: Academic Press

【 摘 要 】

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.

【 授权许可】

CC BY|CC BY-NC-ND