Unknown

Dataset Information

0

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.


ABSTRACT: 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.

SUBMITTER: Li R 

PROVIDER: S-EPMC6492929 | biostudies-literature |

REPOSITORIES: biostudies-literature

Similar Datasets

| S-EPMC8362228 | biostudies-literature
| S-EPMC8045742 | biostudies-literature
| S-EPMC6910241 | biostudies-literature
| S-EPMC6643268 | biostudies-literature
| S-EPMC9209596 | biostudies-literature
| S-EPMC8300001 | biostudies-literature
| S-EPMC6317900 | biostudies-literature
| S-EPMC6189521 | biostudies-literature
| S-EPMC6668028 | biostudies-literature
| S-EPMC7264707 | biostudies-literature