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Generation and characterization of twelve human induced pluripotent stem cell (iPSC) lines from four familial long QT syndrome type 1 (LQT1) patients carrying KCNQ1 c.1201dupC mutation.
Stem Cell Research ( IF 0.8 ) Pub Date : 2019-11-14 , DOI: 10.1016/j.scr.2019.101650 Ning Ge 1 , Min Liu 2 , Yicheng Ding 1 , Janusz Krawczyk 3 , Veronica McInerney 4 , Joseph Galvin 5 , Sanbing Shen 1 , Terence Prendiville 6 , Timothy O'Brien 1
中文翻译：
从四名携带KCNQ1 c.1201dupC突变的家族性长QT综合征1型（LQT1）患者中生成和表征十二种人诱导多能干细胞（iPSC）系。
更新日期：2019-11-14
Stem Cell Research ( IF 0.8 ) Pub Date : 2019-11-14 , DOI: 10.1016/j.scr.2019.101650 Ning Ge 1 , Min Liu 2 , Yicheng Ding 1 , Janusz Krawczyk 3 , Veronica McInerney 4 , Joseph Galvin 5 , Sanbing Shen 1 , Terence Prendiville 6 , Timothy O'Brien 1
Affiliation
In this study, we describe the generation and characterization of induced pluripotent stem cell (iPSC) lines from familial long QT syndrome type 1 (LQT1) patients carrying the KCNQ1 c.1201dupC (p.Arg401fs) frame shift mutation by using non-integrational Sendai reprogramming method. The patient-specific iPSC lines harboring the c.1201dupC mutation on KCNQ1 gene expressed pluripotency markers and had the capacity to differentiate into three germ layers.
中文翻译：
从四名携带KCNQ1 c.1201dupC突变的家族性长QT综合征1型（LQT1）患者中生成和表征十二种人诱导多能干细胞（iPSC）系。
在这项研究中，我们描述了使用非整合型仙台植物从携带KCNQ1 c.1201dupC（p.Arg401fs）移码突变的家族性长QT综合征1型（LQT1）患者中诱导多能干细胞（iPSC）系的产生和特性重编程方法。在KCNQ1基因上带有c.1201dupC突变的患者特异性iPSC品系表达了多能性标记，并具有分化为三个胚层的能力。
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