Diminished GALNS activity in induced pluripotent stem cells of mucopolysaccharidosis IVA caused by compound p. S162Y and p. C165F mutation

Mucopolysaccharidosis (MPS) IVA is a lysosomal storage disorder caused by mutations in the gene encoding the galactosamine (N-acetyl)-6-sulfatase (GALNS) enzyme. Children with MPS IVA usually develop pectus carinatum, genu valgum, and multiple skeletal abnormalities.