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

IF 0.7 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY
Federica Feo , Silvia Falliano , Anna Caciotti , Marina Rinaldi , Alessia Caroli , Laura Giunti , Martino Calamai , Elena Procopio , Renzo Guerrini , Amelia Morrone , Rodolfo Tonin
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引用次数: 0

摘要

粘多糖病型IVA (MPS IVA)是一种常染色体隐性溶酶体贮积症(LSD),由n -乙酰半乳糖胺-6-磺胺酶(GALNS)缺乏引起,以系统性骨骼发育不良和关节异常为特征,伴有呼吸、心脏和内脏表现。我们从MPS IVA患者的成纤维细胞中获得了人诱导多能干细胞(hiPSC)系。该患者为GALNS基因中已知的p.(Gly116Val)和p.(Gly290Ser)的复合杂合。我们使用了一种基于rna的重编程方法。该hiPSC细胞系“Yamanaka”因子阳性,并能分化为所有三种胚层,证实了其多能性潜力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.
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来源期刊
Stem cell research
Stem cell research 生物-生物工程与应用微生物
CiteScore
2.20
自引率
8.30%
发文量
338
审稿时长
55 days
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.
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