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

Blog Article

Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the here 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 sequal eclipse 5 battery (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.