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

Publication date: Available online 5 December 2018Source: Stem Cell ResearchAuthor(s): Rong Li, Manisha Pradhan, Miao Xu, Amanda Baskfield, Atena Farkhondeh, Yu-Shan Cheng, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matt Might, Steven Rodems, Wei ZhengAbstractNGLY1 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.Resource tableUnique stem cell line identifierTRNDi002-BAlternative name(s) of stem cell lineHT519BInstitutionNational Institutes of Health, National Center for Advancing Translational Sciences, Bethesda, Maryland, USAContact information of distributorDr. Wei Zheng Type of cell lineiPSCOriginHumanAdditional origin infoAge: 10-year-oldSex: MaleEthnicity: CaucasianCell SourceSkin fibroblastsClonalityClonalMethod of reprogrammingIntegration-free Sendai viral vectorsGenetic modificationNOType of modificationN/AAssociated diseaseNGLY1 DeficiencyGene/locusNGLY1Q208X; NGLY1G310GMethod of modificationN/AName of transgene or resistanceN/AInducible/co...
Source: Stem Cell Research - Category: Stem Cells Source Type: research