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

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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 read more 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 glitter foam vellen action and a cell-based model for drug development.