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
Summary
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. Copyright © 2025. Published by Elsevier B.V.
| Authors | Feo F, Falliano S, Caciotti A, Rinaldi M, Caroli A, Giunti L, Calamai M, Procopio E, Guerrini R, Morrone A, Tonin R |
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| Journal | Stem cell research |
| Publication Date | 2025 Jun 5;87:103746 |
| PubMed | 40494267 |
| DOI | 10.1016/j.scr.2025.103746 |