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

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 patient was compound heterozygous for the known p.(Gly116Val) and p. (Gly290Ser) in the GALNS gene. We used a reprogramming RNA-based method. This hiPSC line was positive for "Yamanaka" factors and able to differentiate into all three germ layers, confirming its pluripotency potential.