Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene

被引：4

作者：

Li, Rong ^{[1
]}

Pradhan, Manisha ^{[1
]}

Xu, Miao ^{[1
]}

Baskfield, Amanda ^{[1
]}

Farkhondeh, Atena ^{[1
]}

Cheng, Yu-Shan ^{[1
]}

Beers, Jeanette ^{[2
]}

Zou, Jizhong ^{[2
]}

Liu, Chengyu ^{[3
]}

Might, Matthew ^{[4
]}

Rodems, Steven ^{[5
]}

Zheng, Wei ^{[1
]}

机构：

[1] NIH, Natl Ctr Adv Translat Sci, 9800 Med Ctr Dr,MSC 3375, Bethesda, MD 20892 USA

[2] NHLBI, iPSC Core, NIH, Bldg 10, Bethesda, MD 20892 USA

[3] NHLBI, Transgen Core, NIH, Bldg 10, Bethesda, MD 20892 USA

[4] Univ Alabama Birmingham, Birmingham, AL USA

[5] Retrophin Inc, San Diego, CA USA

来源：

STEM CELL RESEARCH | 2019年 / 34卷

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1016/j.scr.2018.101362

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

NGLY1 deficiency is a rare genetic disease caused by mutations in the NGLY1 gene that encodes N-glycanase 1. The disease phenotype in patient cells is unclear. A human induced pluripotent stem cell (iPSC) line was generated from skin dermal fibroblasts of a patient with NGLY1 deficiency that has compound heterozygous mutations of a p.Q208X variant (c.622C > T) in exon 4 and a p.G310G variant (c.930C > T) in exon 6 of the NGLY1 gene. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development to treat NGLY1 deficiency.

引用

页数：5

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