Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene

Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene

Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner. GALNS encodes N-acetylgalactosamine-6-sulfatase that breaks down certain complex carbohydrates known as glycosaminoglycans (GAGs). Deficiency in...

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Main Authors: Rong Li, Amanda Baskfield, Jeanette Beers, Jizhong Zou, Chengyu Liu, Carlos J. Alméciga-Díaz, Wei Zheng
Format: Article
Language:English
Published: Elsevier 2019-04-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119300388
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spelling doaj-4606c10a90ce4b9aac72200a738c14b42020-11-24T23:34:59ZengElsevierStem Cell Research1873-50612019-04-0136Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS geneRong Li0Amanda Baskfield1Jeanette Beers2Jizhong Zou3Chengyu Liu4Carlos J. Alméciga-Díaz5Wei Zheng6National 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, USAInstitute for the Study of Inborn Errors of Metabolism, Faculty of Sciences, Pontificia Universidad Javeriana, Bogotá, Colombia; Correspondence to: C. J. Alméciga-Díaz, Institute for the Study of Inborn Errors of Metabolism, Faculty of Sciences, Pontificia Universidad Javeriana, Cra 7 No. 43-82 Lab 305A Edificio 54, Bogotá, Colombia.National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA; Correspondence to: W. Zheng, National Center for Advancing Translational Sciences, National Institutes of Health, 9800 Medical Center Drive, Bethesda, MD 20892, USA.Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner. GALNS encodes N-acetylgalactosamine-6-sulfatase that breaks down certain complex carbohydrates known as glycosaminoglycans (GAGs). Deficiency in this enzyme causes accumulation of GAGs in lysosomes of body tissues. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a MPS IVA patient that has compound heterozygous mutations (p.R61W and p.WT405del) in the GALNS gene. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development.http://www.sciencedirect.com/science/article/pii/S1873506119300388
collection DOAJ
language English
format Article
sources DOAJ
author Rong Li
Amanda Baskfield
Jeanette Beers
Jizhong Zou
Chengyu Liu
Carlos J. Alméciga-Díaz
Wei Zheng
spellingShingle Rong Li
Amanda Baskfield
Jeanette Beers
Jizhong Zou
Chengyu Liu
Carlos J. Alméciga-Díaz
Wei Zheng
Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
Stem Cell Research
author_facet Rong Li
Amanda Baskfield
Jeanette Beers
Jizhong Zou
Chengyu Liu
Carlos J. Alméciga-Díaz
Wei Zheng
author_sort Rong Li
title Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
title_short Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
title_full Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
title_fullStr Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
title_full_unstemmed Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
title_sort generation of an induced pluripotent stem cell line (trndi005-a) from a mucopolysaccharidosis type iva (mps iva) patient carrying compound heterozygous p.r61w and p.wt405del mutations in the galns gene
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2019-04-01
description Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner. GALNS encodes N-acetylgalactosamine-6-sulfatase that breaks down certain complex carbohydrates known as glycosaminoglycans (GAGs). Deficiency in this enzyme causes accumulation of GAGs in lysosomes of body tissues. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a MPS IVA patient that has compound heterozygous mutations (p.R61W and p.WT405del) in the GALNS gene. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development.
url http://www.sciencedirect.com/science/article/pii/S1873506119300388
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