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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
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 com...
Shranjeno v:
| izdano v: | Stem Cell Res |
|---|---|
| Main Authors: | , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2018
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6492929/ https://ncbi.nlm.nih.gov/pubmed/30612078 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.scr.2018.101362 |
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