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


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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Zhou Y, Jiang C, Wang J, Huang W, Zhang Y, Zhou R
Journal Stem cell research
Publication Date 2022 Dec;65:102955
PubMed 36335801
DOI 10.1016/j.scr.2022.102955

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