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 Res. 2019 Apr:36:101408. doi: 10.1016/j.scr.2019.101408. Epub 2019 Feb 15.

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.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cell Line*
  • Chondroitinsulfatases / genetics*
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells*
  • Male
  • Mucopolysaccharidosis IV / genetics*
  • Sequence Deletion

Substances

  • Chondroitinsulfatases
  • GALNS protein, human