Article
Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene.
Stem cell research - 1 Sept 2025
Feo Federica, Falliano Silvia, Caciotti Anna, Rinaldi Marina, Caroli Alessia, Giunti Laura, Calamai Martino, Procopio Elena, Guerrini Renzo, Morrone Amelia, Tonin Rodolfo
Abstract excerpt
Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder (LSD) caused by a deficiency of enzyme N-acetylgalactosamine-6-sulfatase (GALNS), characterised by systemic skeletal dysplasia and joint abnormalities with respiratory, cardiac and visceral manifestations. We generated a human induced pluripotent stem cell (hiPSC) line derived from MPS IVA patient's fibroblasts. The...
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