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Stem Cell Res. 2019 Feb 15;36:101408. doi: 10.1016/j.scr.2019.101408. [Epub ahead of print]

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.

Author information

1
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
2
iPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
3
Transgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
4
Institute for the Study of Inborn Errors of Metabolism, Faculty of Sciences, Pontificia Universidad Javeriana, Bogotá, Colombia. Electronic address: cjalmeciga@javeriana.edu.co.
5
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: wei.zheng@nih.gov.

Abstract

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.

PMID:
30797135
DOI:
10.1016/j.scr.2019.101408
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