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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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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author Pradhan, Manisha
Farkhondeh, Atena
Cheng, Yu-Shan
Xu, Miao
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Might, Matthew
Rodems, Steven
Baumgärtel, Karsten
Zheng, Wei
author_facet Pradhan, Manisha
Farkhondeh, Atena
Cheng, Yu-Shan
Xu, Miao
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Might, Matthew
Rodems, Steven
Baumgärtel, Karsten
Zheng, Wei
author_sort Pradhan, Manisha
collection PubMed
description 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 a 2-year-old patient carrying compound heterozygous mutations, p.R390P and p.L318P in the NGLY1 gene. This cell-based iPSC disease model provides a resource to study disease pathophysiology and to develop a cell-based disease model for drug development for NGLY1 patients.
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spelling pubmed-83622282021-08-13 An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene Pradhan, Manisha Farkhondeh, Atena Cheng, Yu-Shan Xu, Miao Beers, Jeanette Zou, Jizhong Liu, Chengyu Might, Matthew Rodems, Steven Baumgärtel, Karsten Zheng, Wei Stem Cell Res Article 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 a 2-year-old patient carrying compound heterozygous mutations, p.R390P and p.L318P in the NGLY1 gene. This cell-based iPSC disease model provides a resource to study disease pathophysiology and to develop a cell-based disease model for drug development for NGLY1 patients. 2021-05-20 2021-07 /pmc/articles/PMC8362228/ /pubmed/34051448 http://dx.doi.org/10.1016/j.scr.2021.102400 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Pradhan, Manisha
Farkhondeh, Atena
Cheng, Yu-Shan
Xu, Miao
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Might, Matthew
Rodems, Steven
Baumgärtel, Karsten
Zheng, Wei
An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene
title An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene
title_full An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene
title_fullStr An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene
title_full_unstemmed An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene
title_short An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene
title_sort induced pluripotent stem cell line (ncats-cl9075) from a patient carrying compound heterozygote mutations, p.r390p and p.l318p, in the ngly1 gene
topic Article
url 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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