诱导多能干细胞
生物
重编程
Brugada综合征
胚芽层
突变
核型
内分泌学
遗传学
内科学
分子生物学
细胞生物学
胚胎干细胞
基因
神经科学
染色体
医学
作者
Eline Simons,Aleksandra Nijak,Bart Loeys,Maaike Alaerts
标识
DOI:10.1016/j.scr.2022.102719
摘要
Brugada syndrome (BrS) is an inherited primary electrical disorder of the heart. 25% of BrS patients carry a mutation in the SCN5A gene, encoding the cardiac specific voltage-gated sodium channel Nav1.5. Here we report two iPSC lines (BBANTWi006-A, BBANTWi007-A) of a brother and a sister carrying an SCN5A mutation (c.4813 + 3_4813 + 6dupGGGT) causing BrS. iPSCs were generated from dermal fibroblasts and reprogrammed with the Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). The generated iPSCs showed a normal karyotype, expressed pluripotency markers, were differentiated into cells of the three germ layers and carried the original genotype.
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