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.

Paradigms and Technologies
Methods Development
Therapeutic Approaches


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.


Li, Rong; Pradhan, Manisha; Xu, Miao; Baskfield, Amanda; Farkhondeh Kalat, Atena; Cheng, Yu-Shan; Beers, Jeanette; Zou, Jizhong; Liu, Chengyu; Might, Matthew; Rodems, Steven; Zheng, Wei;

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