人类诱导多能干细胞系（PNUSCRi006-A）来源于一名SGSH基因突变的圣菲利波综合征a型患者

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-02-25 DOI:10.1016/j.scr.2025.103690

Nayeon Lee , Haneul Noh , Chong Kun Cheon

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引用次数: 0

摘要

粘多糖病IIIA型（MPS IIIA），又称Sanfilippo综合征A型，是一种罕见的常染色体隐性溶酶体贮积症，由编码肝素n -硫酸酯酶（HNS）的n -磺基氨基磺酸水解酶（SGSH）基因突变引起。我们从一位被诊断为Sanfilippo综合征的患者身上获得外周血单个核细胞（PBMCs），该细胞携带SGSH基因突变c.[706G> a (p.p asp235asn)];c.[449G> a (p.p arg150gln)]。我们使用非整合的仙台病毒方法成功地从分离的患者pbmc中生成了诱导多能干细胞（iPSC）系。hiPSCs具有胚胎干细胞的特征，能够分化为三种胚层，核型正常。

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Human induced pluripotent stem cell line (PNUSCRi006-A) derived from a patient with Sanfilippo syndrome type A exhibiting a mutation in SGSH gene

Mucopolysaccharidosis Type IIIA (MPS IIIA), known as Sanfilippo syndrome type A, is a rare autosomal recessive lysosomal storage disorder caused by the mutations in the N-sulfoglucosamine Sulfohydrolase (SGSH) gene, encoding the enzyme heparan N-sulfatase (HNS). We obtained peripheral blood mononuclear cells (PBMCs) from a patient diagnosed with Sanfilippo syndrome carrying the mutation c.[706G>A(p.Asp235Asn)];c.[449G>A (p.Arg150Gln)] in the SGSH gene. We successfully generated an induced pluripotent stem cell (iPSC) line from isolated patient PBMCs using a non-integrative Sendai virus method. The hiPSCs displayed characteristics of embryonic stem cells, showed the ability to differentiate into three germ layers, and presented a normal karyotype.

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来源期刊

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.