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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Stem Cell Res
Huvudupphovsmän: Yang, Shu, Cheng, Yu-Shan, Li, Rong, Pradhan, Manisha, Hong, Junjie, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Might, Matt, Rodems, Steven, Zheng, Wei
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2019
Ämnen:
Article
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk