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
Summary
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 by Elsevier B.V.
| Authors | Li R, Baskfield A, Beers J, Zou J, Liu C, Alméciga-Díaz CJ, Zheng W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 Apr;36:101408 |
| PubMed | 30797135 |
| PubMed Central | PMC8045742 |
| DOI | 10.1016/j.scr.2019.101408 |