Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene

NGLY1 deficiency is a rare genetic disease caused by mutations in the NGLY1 gene that encodes N-glycanase 1. The disease phenotype in patient cells is unclear. A human induced pluripotent stem cell (iPSC) line was generated from skin dermal fibroblasts of a patient with NGLY1 deficiency that has com...

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Autores principales: Li, Rong, Pradhan, Manisha, Xu, Miao, Baskfield, Amanda, Farkhondeh, Atena, Cheng, Yu-Shan, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Might, Matthew, Rodems, Steven, Zheng, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6492929/
https://www.ncbi.nlm.nih.gov/pubmed/30612078
http://dx.doi.org/10.1016/j.scr.2018.101362
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author Li, Rong
Pradhan, Manisha
Xu, Miao
Baskfield, Amanda
Farkhondeh, Atena
Cheng, Yu-Shan
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Might, Matthew
Rodems, Steven
Zheng, Wei
author_facet Li, Rong
Pradhan, Manisha
Xu, Miao
Baskfield, Amanda
Farkhondeh, Atena
Cheng, Yu-Shan
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Might, Matthew
Rodems, Steven
Zheng, Wei
author_sort Li, Rong
collection PubMed
description NGLY1 deficiency is a rare genetic disease caused by mutations in the NGLY1 gene that encodes N-glycanase 1. The disease phenotype in patient cells is unclear. A human induced pluripotent stem cell (iPSC) line was generated from skin dermal fibroblasts of a patient with NGLY1 deficiency that has compound heterozygous mutations of a p.Q208X variant (c.622C > T) in exon 4 and a p.G310G variant (c.930C > T) in exon 6 of the NGLY1 gene. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development to treat NGLY1 deficiency.
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spelling pubmed-64929292019-05-01 Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene Li, Rong Pradhan, Manisha Xu, Miao Baskfield, Amanda Farkhondeh, Atena Cheng, Yu-Shan Beers, Jeanette Zou, Jizhong Liu, Chengyu Might, Matthew Rodems, Steven Zheng, Wei Stem Cell Res Article NGLY1 deficiency is a rare genetic disease caused by mutations in the NGLY1 gene that encodes N-glycanase 1. The disease phenotype in patient cells is unclear. A human induced pluripotent stem cell (iPSC) line was generated from skin dermal fibroblasts of a patient with NGLY1 deficiency that has compound heterozygous mutations of a p.Q208X variant (c.622C > T) in exon 4 and a p.G310G variant (c.930C > T) in exon 6 of the NGLY1 gene. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development to treat NGLY1 deficiency. 2018-12-05 2019-01 /pmc/articles/PMC6492929/ /pubmed/30612078 http://dx.doi.org/10.1016/j.scr.2018.101362 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
Li, Rong
Pradhan, Manisha
Xu, Miao
Baskfield, Amanda
Farkhondeh, Atena
Cheng, Yu-Shan
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Might, Matthew
Rodems, Steven
Zheng, Wei
Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene
title Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene
title_full Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene
title_fullStr Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene
title_full_unstemmed Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene
title_short Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene
title_sort generation of an induced pluripotent stem cell line (trndi002-b) from a patient carrying compound heterozygous p.q208x and p.g310g mutations in the ngly1 gene
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6492929/
https://www.ncbi.nlm.nih.gov/pubmed/30612078
http://dx.doi.org/10.1016/j.scr.2018.101362
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