Federica Feo , Silvia Falliano , Anna Caciotti , Marina Rinaldi , Alessia Caroli , Laura Giunti , Martino Calamai , Elena Procopio , Renzo Guerrini , Amelia Morrone , Rodolfo Tonin
{"title":"产生粘多糖病型IVA (MPS IVA) (AOUMEYi003-A)的细胞模型,该模型来自携带GALNS基因p.G116V和p.G290S复合杂合突变的患者","authors":"Federica Feo , Silvia Falliano , Anna Caciotti , Marina Rinaldi , Alessia Caroli , Laura Giunti , Martino Calamai , Elena Procopio , Renzo Guerrini , Amelia Morrone , Rodolfo Tonin","doi":"10.1016/j.scr.2025.103746","DOIUrl":null,"url":null,"abstract":"<div><div>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 <em>GALNS</em> 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.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103746"},"PeriodicalIF":0.7000,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"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\",\"authors\":\"Federica Feo , Silvia Falliano , Anna Caciotti , Marina Rinaldi , Alessia Caroli , Laura Giunti , Martino Calamai , Elena Procopio , Renzo Guerrini , Amelia Morrone , Rodolfo Tonin\",\"doi\":\"10.1016/j.scr.2025.103746\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>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 <em>GALNS</em> 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.</div></div>\",\"PeriodicalId\":21843,\"journal\":{\"name\":\"Stem cell research\",\"volume\":\"87 \",\"pages\":\"Article 103746\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-06-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Stem cell research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1873506125000960\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"BIOTECHNOLOGY & APPLIED MICROBIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Stem cell research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1873506125000960","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}
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.
期刊介绍:
Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.