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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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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author Yang, Shu
Cheng, Yu-Shan
Li, Rong
Pradhan, Manisha
Hong, Junjie
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Might, Matt
Rodems, Steven
Zheng, Wei
author_facet Yang, Shu
Cheng, Yu-Shan
Li, Rong
Pradhan, Manisha
Hong, Junjie
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Might, Matt
Rodems, Steven
Zheng, Wei
author_sort Yang, Shu
collection PubMed
description 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 of p.R401X (c.1201 A >T) in the NGLY1 gene. Our iPSC model offers a useful resource to study the disease pathophysiology and to develop therapeutics for treatment of NGLY1 patients.
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spelling pubmed-69102412019-12-13 An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene Yang, Shu Cheng, Yu-Shan Li, Rong Pradhan, Manisha Hong, Junjie Beers, Jeanette Zou, Jizhong Liu, Chengyu Might, Matt Rodems, Steven Zheng, Wei Stem Cell Res Article 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 of p.R401X (c.1201 A >T) in the NGLY1 gene. Our iPSC model offers a useful resource to study the disease pathophysiology and to develop therapeutics for treatment of NGLY1 patients. 2019-07-09 2019-08 /pmc/articles/PMC6910241/ /pubmed/31326749 http://dx.doi.org/10.1016/j.scr.2019.101496 Text en https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/BY/4.0/ (https://creativecommons.org/licenses/by/4.0/) ).
spellingShingle Article
Yang, Shu
Cheng, Yu-Shan
Li, Rong
Pradhan, Manisha
Hong, Junjie
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Might, Matt
Rodems, Steven
Zheng, Wei
An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene
title An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene
title_full An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene
title_fullStr An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene
title_full_unstemmed An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene
title_short An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene
title_sort induced pluripotent stem cell line (trndi010-c) from a patient carrying a homozygous p.r401x mutation in the ngly1 gene
topic Article
url 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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