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An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene

NGLY1 deficiency is a rare inherited disorder caused by mutations in the NGLY1 gene encoding N-glycanase 1 that is a hydrolase for N-linked glycosylated proteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 16-year-old patient with homozygous mutation...

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Detalles Bibliográficos
Autores principales:	Yang, Shu, Cheng, Yu-Shan, Li, Rong, Pradhan, Manisha, Hong, Junjie, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Might, Matt, Rodems, Steven, Zheng, Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6910241/ https://www.ncbi.nlm.nih.gov/pubmed/31326749 http://dx.doi.org/10.1016/j.scr.2019.101496

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