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

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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Main Authors: Wei Huang, Miao Xu, Rong Li, Amanda Baskfield, Jennifer Kouznetsova, Jeanette Beers, Jizhong Zou, Chengyu Liu, Wei Zheng
Format: Article
Language:English
Published: Elsevier 2019-05-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119300571
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spelling doaj-f0621ebad52b431ea45c4f325fd531732020-11-25T01:02:31ZengElsevierStem Cell Research1873-50612019-05-0137An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU geneWei Huang0Miao Xu1Rong Li2Amanda Baskfield3Jennifer Kouznetsova4Jeanette Beers5Jizhong Zou6Chengyu Liu7Wei Zheng8National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USAiPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USAiPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USATransgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USANational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA; Corresponding author at: National Center for Advancing Translational Sciences, National Institutes of Health, 9800 Medical Center Drive, MSC: 3375, Bethesda, MD 20892, USA.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.http://www.sciencedirect.com/science/article/pii/S1873506119300571
collection DOAJ
language English
format Article
sources DOAJ
author Wei Huang
Miao Xu
Rong Li
Amanda Baskfield
Jennifer Kouznetsova
Jeanette Beers
Jizhong Zou
Chengyu Liu
Wei Zheng
spellingShingle Wei Huang
Miao Xu
Rong Li
Amanda Baskfield
Jennifer Kouznetsova
Jeanette Beers
Jizhong Zou
Chengyu Liu
Wei Zheng
An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene
Stem Cell Research
author_facet Wei Huang
Miao Xu
Rong Li
Amanda Baskfield
Jennifer Kouznetsova
Jeanette Beers
Jizhong Zou
Chengyu Liu
Wei Zheng
author_sort Wei Huang
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_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_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_sort induced pluripotent stem cell line (trndi006-a) from a mps iiib patient carrying homozygous mutation of p.glu153lys in the naglu gene
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2019-05-01
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.
url http://www.sciencedirect.com/science/article/pii/S1873506119300571
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