来自长QT综合征患者尿液上皮细胞的诱导多能干细胞模型建立
Induced pluripotent stem cell model from urine epithelial cells of patient with long QT syndrome.
目的 本研究拟建立中国长QT综合征（LQTS）患者KCNQ1基因突变特异的诱导多能干细胞（iPSC）模型。方法 根据临床症状及心电图表现，选取1名携带c.605-2A>G/c.815G>A 突变的LQTS患者，收集患者尿液，提取尿液上皮细胞。利用编码Sox2、Klf4、Oct4、L-Myc、Nanog,、Lin28、SV40LT的附着体质粒组合转染患者尿液细胞。获得iPSC后对其进行外源基因沉默检测及全能性分析。结果 获得LQTS患者特异性iPS细胞两株:L1C4和L1C5 。这2株克隆外源基因沉默，核型正常，多能性标记物表达与人胚胎干细胞相似。此外，体外分化实验及畸胎瘤实验也证明获得细胞株的全能性。结论 成功获得携带 KCNQ1-c.605-2A>G/c.815G>A 双突变的LQTS患者iPS细胞株，为后续机制研究奠定了基础。。
Objective To establish patient-specific iPS model of Chinese LQTS patients with KCNQ1 mutations. Methods Based on clinical symptoms and electrocardiograms, a LQTS patient carrying KCNQ1-c.605-2A>G/c.815G>A was selected. The epithelial cells was collected from the urine of this patient. Episomal combination coding Sox2，Klf4，Oct4，L-Myc，Nanog, Lin28 is transfected into epithelial cells of the patient. After iPS cell lines were obtained, the silencing of exogenous genes and their pluripotency were tested. ResultsTwo iPS cell lines L1C4 and L1C5 of the patient were obtained. In these cells, exogenous genes are all silenced and the expression of human embryonic stem cell (ESC) markers are similar to human ES cells. Additionally, teratoma test and EB formation test demonstrated the totipotence of these iPS cell lines. Conclusion LQTS patient-specific iPS cell lines were successfully obtained，which lay the foundation of further mechanism study.?????
刘文玲、王震、胡大一、李翠兰
基础医学细胞生物学遗传学
心血管病学长QT综合征（LQTS）诱导多能干细胞（IPSC）附着体质粒
cardiologylong QT syndrome (LQTS)induced pluripotent stem cell (iPS cell)episomal plasmid
刘文玲,王震,胡大一,李翠兰.来自长QT综合征患者尿液上皮细胞的诱导多能干细胞模型建立[EB/OL].(2015-02-06)[2025-04-27].http://www.paper.edu.cn/releasepaper/content/201502-79.点此复制
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