Generation of one human induced pluripotent stem cell line (XACHi004-A) with heterozygous mutation of RYR2 gene from an atrial fibrillation patient

[摘要] As the most frequently diagnosed arrhythmia, atrial fibrillation (AF) has been recently reported to be closely related to ryanodine receptor (RyR2) dysfunction and calcium leak. Here, using non-integrating sendai viral method, we generated one iPSC line from peripheral blood mononuclear cells (PBMC) isolated a 10-year-old boy with simple atrial fibrillation which carries the heterozygous mutation in RYR2 gene (c.14638G > A, p.V4880I). The generated iPSC line was identified by the typical cell morphology, highly expressed pluripotent markers, normal karyotype, and in-vitro trilineage differentiation potential. It will provide a useful model for studying the pathophysiological consequences of RYR2 mutation on the AF pathogenesis.

[学科分类] 生理学