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首页> 外文期刊>Stem cell research >Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
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Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene

机译:从Galns基因中携带复合杂合子P.R61W和P.WT405DEL突变的粘性多能干细胞系(TRNDI005-A)从粘性杂种型患者中产生诱导的多能干细胞系(TRNDI005-A)

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摘要

Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner. GALNS encodes N-acetylgalactosamine-6-sulfatase that breaks down certain complex carbohydrates known as glycosaminoglycans (GAGs). Deficiency in this enzyme causes accumulation of GAGs in lysosomes of body tissues. A human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a MPS IVA patient that has compound heterozygous mutations (p.R61W and p.WT405del) in the GALNS gene. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development.
机译:粘性多族种IVA(MPS IVA)是由Galns基因突变引起的罕见遗传疾病,并以常染色体隐性方式遗传。 GALN编码N-乙酰甘油酰胺-6-硫酸酶,其分解为称为糖胺聚糖(GAG)的某些复合碳水化合物。这种酶的缺乏导致血清溶质在身体组织的溶酶体中的积累。从Galns基因中具有化合物杂合突变(P.R61W和P.WT405DEL)的MPS IVA患者的皮肤成纤维细胞产生人诱导的多能干细胞(IPSC)系。这种IPSC线提供了一种研究疾病病理生理学和基于细胞的药物开发模型的有用资源。

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