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An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene

NGLY1 deficiency is a rare disorder caused by mutations in the NGLY1 gene which codes for the highly conserved N-glycanase1 (NGLY1). This enzyme functions in cytosolic deglycosylation of N-linked glycoproteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of...

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Detalles Bibliográficos
Autores principales:	Pradhan, Manisha, Farkhondeh, Atena, Cheng, Yu-Shan, Xu, Miao, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Might, Matthew, Rodems, Steven, Baumgärtel, Karsten, Zheng, Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362228/ https://www.ncbi.nlm.nih.gov/pubmed/34051448 http://dx.doi.org/10.1016/j.scr.2021.102400

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