Generation of iPSC lines from CPVT patient carrying heterozygous mutation p.A2254V in the ryanodine receptor 2 gene

Autor: Wener Li, Sarah Henze, Xiaojing Luo, Ying Ulbricht, Anja Richter, Nataliya Di Donato, Arthur A.M. Wilde, Kaomei Guan
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Stem Cell Research, Vol 53, Iss , Pp 102259- (2021)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2021.102259
Popis: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inheritable cardiac disorder, which is characterized by life-threatening cardiac arrhythmias, syncope, seizures, or sudden cardiac death in response to physical exercise or emotional stress. This inherited disease is predominantly caused by mutations in the ryanodine receptor type 2 (RYR2). To minimize the cell line variations for disease modeling, we generated two induced pluripotency stem cell lines (hiPSCs: isCPVTA2254V1-2 and isCPVTA2254V1-3) from skin fibroblasts of one CPVT patient carrying the p.A2254V mutation using CytoTune2.0 Sendai virus cocktail for non-integration reprogramming. All generated iPSCs maintained pluripotency, normal karyotype, and spontaneous in vivo and in vitro differentiation capacity.
Databáze: Directory of Open Access Journals