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

Rong Li; Amanda Baskfield; Jeanette Beers; Jizhong Zou; Chengyu Liu; Carlos J. Alméciga-Díaz; Wei Zheng

Stem Cell Research (Apr 2019)

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

Rong Li,
Amanda Baskfield,
Jeanette Beers,
Jizhong Zou,
Chengyu Liu,
Carlos J. Alméciga-Díaz,
Wei Zheng

Affiliations

Rong Li: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
Amanda Baskfield: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
Jeanette Beers: iPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Jizhong Zou: iPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Chengyu Liu: Transgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Carlos J. Alméciga-Díaz: Institute 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.
Wei Zheng: 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.

Journal volume & issue: Vol. 36

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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