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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Vydáno v:Stem Cell Res
Hlavní autoři: Yang, Shu, Cheng, Yu-Shan, Li, Rong, Pradhan, Manisha, Hong, Junjie, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Might, Matt, Rodems, Steven, Zheng, Wei
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6910241/
https://ncbi.nlm.nih.gov/pubmed/31326749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.scr.2019.101496
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