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Induced pluripotent stem cell line UOMi002-A from a patient with Leigh syndrome with compound heterozygous mutations in the NDUFV1 gene.
Stem Cell Research ( IF 1.2 ) Pub Date : 2020-08-27 , DOI: 10.1016/j.scr.2020.101964
Glen Lester Sequiera 1 , Cheryl Rockman-Greenberg 2 , Sanjiv Dhingra 1
Affiliation  

Within the umbrella of mitochondrial disorders, Leigh’s disease is characterised as a rarer form with more than 80 genetic and mitochondrial DNA aberration variants. Here we report establishment of an induced pluripotent stem cell (iPSC) line from a 2.5 years old deceased female child, harbouring mutations in the NDUFV1 gene. One of the variants reported here is novel. The establishment of iPSC line allows development of a stable disease model for the specific variations, as there are no other cell/animal disease models for the same.



中文翻译:

来自患有Leigh综合征且在NDUFV1基因中具有复合杂合突变的患者的多能干细胞系UOMi002-A。

在线粒体疾病的保护范围内,利氏病的特征是一种罕见的形式,具有80多种遗传和线粒体DNA畸变变体。在这里,我们报告从一个2.5岁的死去的女婴中诱导多能干细胞(iPSC)系的建立,该系具有NDUFV1基因的突变。这里报道的变体之一是新颖的。iPSC系的建立允许针对特定变异开发稳定的疾病模型,因为没有其他相同的细胞/动物疾病模型。

更新日期:2020-08-27
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