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Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1.
Stem Cell Research ( IF 0.8 ) Pub Date : 2019-11-20 , DOI: 10.1016/j.scr.2019.101658
Manuela Mura 1 , Francesca Bastaroli 2 , Marzia Corli 2 , Monia Ginevrino 3 , Federica Calabrò 1 , Marina Boni 4 , Lia Crotti 5 , Enza Maria Valente 3 , Peter J Schwartz 6 , Massimiliano Gnecchi 7
Affiliation  

We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 40 years old female patient homozygous for the mutation c.535 G > A p.G179S on the KCNQ1 gene, causing a severe form of autosomal recessive Long QT Syndrome type 1 (AR-LQT1). The hiPSCs, generated using classical approach of the four retroviruses enconding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and differentiate into cell lineages of all three germ layers: endoderm, mesoderm and ectoderm.



中文翻译:

从患有长QT综合征1型常染色体隐性形式的患者中产生人诱导的多能干细胞(hiPSC)系PSMi006-A。

我们从一名40岁女性患者的真皮成纤维细胞中产生人诱导的多能干细胞(hiPSC),该患者为纯合子,其KCNQ1基因突变为c.535 G  >  A p.G179S,引起严重的常染色体隐性隐性Long QT综合征1型。 (AR-LQT1)。使用包含逆编程因子OCT4,SOX2,cMYC和KLF4的四种逆转录病毒的经典方法生成的hiPSC显示多能干细胞特征,并分化为所有三个胚层的细胞谱系:内胚层,中胚层和外胚层。

更新日期:2019-11-20
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