Generation of Induced Pluripotent Stem Cell Line FAMRCi012-A from a Patient with Ventricular Fibrillation Carrying Genetic Variant SCN5A p.Ser805Leu

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发表日期：

2024年12月1日

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E. G. Nikitina,
V. V. Garnyuk,
A. A. Khudiakov,
K. I. Perepelina,
N. L. Rodina,
Yu. V. Fomicheva,
A. M. Zlotina,
L. A. Mkrtchian,
E. N. Mikhaylov,
D. S. Lebedev,
A. A. Kostareva

摘要

Abstract

Induced Pluripotent Stem Cell (iPSC) line FAMRCi012-A was generated by reprogramming peripheral blood mononuclear cells (PBMC) of the patient carrying genetic variant of uncertain significance p.Ser805Leu in SCN5A gene. Line FAMRCi012-A was characterized according to common guidelines and showed iPSC properties: typical morphology, normal karyotype (46,XY), expression of markers specific for human pluripotent stem cells (OCT4, NANOG, SSEA4), the ability of differentiation into three germ layers in vitro. The reported iPSC line can be used for discovering the contribution of genetic variant of uncertain significance p.Ser805Leu in SCN5A to development in human heart rhythm disorders.