Unknown

Dataset Information

0

An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene.


ABSTRACT: NGLY1 deficiency is a rare disorder caused by mutations in the NGLY1 gene which codes for the highly conserved N-glycanase1 (NGLY1). This enzyme functions in cytosolic deglycosylation of N- linked glycoproteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 2-year-old patient carrying compound heterozygous mutations, p.R390P and p.L318P in the NGLY1 gene. This cell-based iPSC disease model provides a resource to study disease pathophysiology and to develop a cell-based disease model for drug development for NGLY1 patients.

SUBMITTER: Pradhan M 

PROVIDER: S-EPMC8362228 | biostudies-literature |

REPOSITORIES: biostudies-literature

Similar Datasets

| S-EPMC6492929 | biostudies-literature
| S-EPMC8647947 | biostudies-literature
| S-EPMC6910241 | biostudies-literature
| S-EPMC8045742 | biostudies-literature
| S-EPMC9209596 | biostudies-literature
| S-EPMC6658133 | biostudies-literature
| S-EPMC6559735 | biostudies-literature
| S-EPMC6426117 | biostudies-literature
| S-EPMC294226 | biostudies-other
| S-EPMC7264707 | biostudies-literature