Human Cell Lines with NGLY1 Mutations for the Study of NGLY1 Deficiency and Therapeutic Development

Congenital disorders of glycosylation (CDGs) are a group of inborn errors characterized by abnormalities in the process of glycosylation of biomolecules. Although more than 100 different CDGs have been reported, only one has been thoroughly described, namely NGLY1 deficiency or NGLY1-CDG. NGLY1 encodes N-glycanase 1, an enzyme involved in the cytosolic degradation of misfolded glycoproteins and other glycoproteins bound for degradation. This technology includes fifteen fibroblast cell lines isolated from patients from 2.5 years to 21.3 years to be used to study the defects in NGLY1 gene and protein and to screen small molecules for involvement in NGLY1 deficiency. They could also be used to generate induced pluripotent stem cells (iPSCs) as models of this deficiency.