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...

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Publicado en:Stem Cell Res
Main Authors: Li, Rong, Pradhan, Manisha, Xu, Miao, Baskfield, Amanda, Farkhondeh, Atena, Cheng, Yu-Shan, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Might, Matthew, Rodems, Steven, Zheng, Wei
Formato: Artigo
Idioma:Inglês
Publicado: 2018
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Article
Acceso en liña: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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