Generation of two iPSC lines (FAMRCi004-A and FAMRCi004-B) from patient with familial progressive cardiac conduction disorder carrying genetic variant DSP p.His1684Arg

从携带遗传变异 DSP p.His1684Arg 的家族性进行性心脏传导障碍患者体内生成两种 iPSC 系 (FAMRCi004-A 和 FAMRCi004-B)

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作者:Aleksandr Khudiakov, Kseniya Perepelina, Polina Klauzen, Anna Zlotina, Konstantin Gusev, Elena Kaznacheyeva, Anna Malashicheva, Anna Kostareva

Abstract

Human iPSC cell lines (FAMRCi004-A and FAMRCi004-B) were generated from patient with progressive cardiac conduction disease and sick sinus syndrome carrying DSP p.His1684Arg genetic variant. Patient-specific adipose tissue-derived mesenchymal multipotent stromal cells were reprogrammed using non-integrative Sendai viruses. Established iPSC lines showed normal karyotype, expressed pluripotent markers and were able to differentiate toward three germ layers in vitro. The reported iPSC lines could be useful tool for in vitro modeling of progressive cardiac conduction disease associated with mutations in desmosomal genes.

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