来自一名在NGLY1基因中携带纯合p.R401X突变的患者的诱导多能干细胞系（TRNDi010-C）。
An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene.
作者信息
Yang Shu, Cheng Yu-Shan, Li Rong, Pradhan Manisha, Hong Junjie, Beers Jeanette, Zou Jizhong, Liu Chengyu, Might Matt, Rodems Steven, Zheng Wei
机构信息
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
iPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
出版信息
Stem Cell Res. 2019 Aug;39:101496. doi: 10.1016/j.scr.2019.101496. Epub 2019 Jul 9.
NGLY1 deficiency is a rare inherited disorder caused by mutations in the NGLY1 gene encoding N-glycanase 1 that is a hydrolase for N-linked glycosylated proteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 16-year-old patient with homozygous mutation of p.R401X (c.1201 A>T) in the NGLY1 gene. Our iPSC model offers a useful resource to study the disease pathophysiology and to develop therapeutics for treatment of NGLY1 patients.
NGLY1缺乏症是一种罕见的遗传性疾病，由编码N-聚糖酶1的NGLY1基因突变引起，N-聚糖酶1是一种N-连接糖基化蛋白的水解酶。从一名16岁的NGLY1基因纯合p.R401X（c.1201 A>T）突变患者的皮肤成纤维细胞中生成了诱导多能干细胞（iPSC）系。我们的iPSC模型为研究疾病病理生理学和开发治疗NGLY1患者的疗法提供了有用的资源。
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