An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene

Mucopolysaccharidosis type III B (MPS IIIB) is a lysosomal storage disorder caused by mutations in the NAGLU gene encoding N-acetylglucosaminidase. Here, we report the generation of a human induced pluripotent stem cell (iPSC) line from dermal fibroblasts of a MPS IIIB patient. The iPSC line has hom...

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Autores principales: Huang, Wei, Xu, Miao, Li, Rong, Baskfield, Amanda, Kouznetsova, Jennifer, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Zheng, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6559735/
https://www.ncbi.nlm.nih.gov/pubmed/30933722
http://dx.doi.org/10.1016/j.scr.2019.101427
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author Huang, Wei
Xu, Miao
Li, Rong
Baskfield, Amanda
Kouznetsova, Jennifer
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Zheng, Wei
author_facet Huang, Wei
Xu, Miao
Li, Rong
Baskfield, Amanda
Kouznetsova, Jennifer
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Zheng, Wei
author_sort Huang, Wei
collection PubMed
description Mucopolysaccharidosis type III B (MPS IIIB) is a lysosomal storage disorder caused by mutations in the NAGLU gene encoding N-acetylglucosaminidase. Here, we report the generation of a human induced pluripotent stem cell (iPSC) line from dermal fibroblasts of a MPS IIIB patient. The iPSC line has homozygous mutations of G > A transversion at nucleotide 457 of the NAGLU gene (457G > A), resulting in the substitution of lysine for glutamic acid at codon 153 (Glu153Lys). This iPSC line allows for the study of disease phenotypes and pathophysiology as well as disease modeling in human cells.
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spelling pubmed-65597352019-06-11 An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene Huang, Wei Xu, Miao Li, Rong Baskfield, Amanda Kouznetsova, Jennifer Beers, Jeanette Zou, Jizhong Liu, Chengyu Zheng, Wei Stem Cell Res Article Mucopolysaccharidosis type III B (MPS IIIB) is a lysosomal storage disorder caused by mutations in the NAGLU gene encoding N-acetylglucosaminidase. Here, we report the generation of a human induced pluripotent stem cell (iPSC) line from dermal fibroblasts of a MPS IIIB patient. The iPSC line has homozygous mutations of G > A transversion at nucleotide 457 of the NAGLU gene (457G > A), resulting in the substitution of lysine for glutamic acid at codon 153 (Glu153Lys). This iPSC line allows for the study of disease phenotypes and pathophysiology as well as disease modeling in human cells. 2019-03-23 2019-05 /pmc/articles/PMC6559735/ /pubmed/30933722 http://dx.doi.org/10.1016/j.scr.2019.101427 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
Huang, Wei
Xu, Miao
Li, Rong
Baskfield, Amanda
Kouznetsova, Jennifer
Beers, Jeanette
Zou, Jizhong
Liu, Chengyu
Zheng, Wei
An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene
title An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene
title_full An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene
title_fullStr An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene
title_full_unstemmed An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene
title_short An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene
title_sort induced pluripotent stem cell line (trndi006-a) from a mps iiib patient carrying homozygous mutation of p.glu153lys in the naglu gene
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6559735/
https://www.ncbi.nlm.nih.gov/pubmed/30933722
http://dx.doi.org/10.1016/j.scr.2019.101427
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