Work

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

Year: 2022

Type: 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.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2022.102834

Authors: Carlos D. Vera, Amit Manhas, Sushma P. Shenoy, Matthew T. Wheeler, Karim Sallam, Joseph C. Wu

Institutions: Stanford Medicine, Stanford Cardiovascular Institute, Stanford University

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,100