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....
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-09-01
|
| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506125000960 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849332812857999360 |
|---|---|
| author | Federica Feo Silvia Falliano Anna Caciotti Marina Rinaldi Alessia Caroli Laura Giunti Martino Calamai Elena Procopio Renzo Guerrini Amelia Morrone Rodolfo Tonin |
| author_facet | Federica Feo Silvia Falliano Anna Caciotti Marina Rinaldi Alessia Caroli Laura Giunti Martino Calamai Elena Procopio Renzo Guerrini Amelia Morrone Rodolfo Tonin |
| author_sort | Federica Feo |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-113be9b5feef46649f9a0f6acb6792f5 |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-113be9b5feef46649f9a0f6acb6792f52025-08-20T03:46:05ZengElsevierStem Cell Research1873-50612025-09-018710374610.1016/j.scr.2025.103746Generation 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 geneFederica Feo0Silvia Falliano1Anna Caciotti2Marina Rinaldi3Alessia Caroli4Laura Giunti5Martino Calamai6Elena Procopio7Renzo Guerrini8Amelia Morrone9Rodolfo Tonin10Department of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy; Department of Neuroscience and Medical Genetics, Meyer Children’s Hospital IRCCS, Florence, ItalyDepartment of Neuroscience and Medical Genetics, Meyer Children’s Hospital IRCCS, Florence, ItalyDepartment of Neuroscience and Medical Genetics, Meyer Children’s Hospital IRCCS, Florence, ItalyDepartment of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy; Department of Neuroscience and Medical Genetics, Meyer Children’s Hospital IRCCS, Florence, ItalyDepartment of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, ItalyNeuro-Oncology Unit Department of Pediatric Oncology, Meyer Children’s Hospital IRCCS, Florence, ItalyEuropean Laboratory for Non-linear Spectroscopy (LENS), University of Florence, Florence, ItalyDepartment of Neuroscience and Medical Genetics, Meyer Children’s Hospital IRCCS, Florence, ItalyDepartment of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy; Department of Neuroscience and Medical Genetics, Meyer Children’s Hospital IRCCS, Florence, ItalyDepartment of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy; Department of Neuroscience and Medical Genetics, Meyer Children’s Hospital IRCCS, Florence, Italy; Corresponding author at: Department of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy.Department of Neuroscience and Medical Genetics, Meyer Children’s Hospital IRCCS, Florence, ItalyMucopolysaccharidosis 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.http://www.sciencedirect.com/science/article/pii/S1873506125000960 |
| spellingShingle | Federica Feo Silvia Falliano Anna Caciotti Marina Rinaldi Alessia Caroli Laura Giunti Martino Calamai Elena Procopio Renzo Guerrini Amelia Morrone Rodolfo Tonin 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 |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://www.sciencedirect.com/science/article/pii/S1873506125000960 |
| work_keys_str_mv | AT federicafeo generationofacellularmodelformucopolysaccharidosistypeivampsivaaoumeyi003afromapatientcarryingcompoundheterozygousmutationspg116vandpg290sinthegalnsgene AT silviafalliano generationofacellularmodelformucopolysaccharidosistypeivampsivaaoumeyi003afromapatientcarryingcompoundheterozygousmutationspg116vandpg290sinthegalnsgene AT annacaciotti generationofacellularmodelformucopolysaccharidosistypeivampsivaaoumeyi003afromapatientcarryingcompoundheterozygousmutationspg116vandpg290sinthegalnsgene AT marinarinaldi generationofacellularmodelformucopolysaccharidosistypeivampsivaaoumeyi003afromapatientcarryingcompoundheterozygousmutationspg116vandpg290sinthegalnsgene AT alessiacaroli generationofacellularmodelformucopolysaccharidosistypeivampsivaaoumeyi003afromapatientcarryingcompoundheterozygousmutationspg116vandpg290sinthegalnsgene AT lauragiunti generationofacellularmodelformucopolysaccharidosistypeivampsivaaoumeyi003afromapatientcarryingcompoundheterozygousmutationspg116vandpg290sinthegalnsgene AT martinocalamai generationofacellularmodelformucopolysaccharidosistypeivampsivaaoumeyi003afromapatientcarryingcompoundheterozygousmutationspg116vandpg290sinthegalnsgene AT elenaprocopio generationofacellularmodelformucopolysaccharidosistypeivampsivaaoumeyi003afromapatientcarryingcompoundheterozygousmutationspg116vandpg290sinthegalnsgene AT renzoguerrini generationofacellularmodelformucopolysaccharidosistypeivampsivaaoumeyi003afromapatientcarryingcompoundheterozygousmutationspg116vandpg290sinthegalnsgene AT ameliamorrone generationofacellularmodelformucopolysaccharidosistypeivampsivaaoumeyi003afromapatientcarryingcompoundheterozygousmutationspg116vandpg290sinthegalnsgene AT rodolfotonin generationofacellularmodelformucopolysaccharidosistypeivampsivaaoumeyi003afromapatientcarryingcompoundheterozygousmutationspg116vandpg290sinthegalnsgene |