一株来自患有MPS IIIB疾病患者的诱导多能干细胞系（TRNDi006-A），该患者的NAGLU基因存在p.Glu153Lys纯合突变。
An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene.
作者信息
Huang Wei, Xu Miao, Li Rong, Baskfield Amanda, Kouznetsova Jennifer, Beers Jeanette, Zou Jizhong, Liu Chengyu, Zheng Wei
机构信息
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
iPSC core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
出版信息
Stem Cell Res. 2019 May;37:101427. doi: 10.1016/j.scr.2019.101427. Epub 2019 Mar 23.
Mucopolysaccharidosis type III B (MPS IIIB) is a lysosomal storage disorder caused by mutations in the NAGLU gene encoding N-acetylglucosaminidase. Here, we report the generation of a human induced pluripotent stem cell (iPSC) line from dermal fibroblasts of a MPS IIIB patient. The iPSC line has homozygous mutations of G>A transversion at nucleotide 457 of the NAGLU gene (457G>A), resulting in the substitution of lysine for glutamic acid at codon 153 (Glu153Lys). This iPSC line allows for the study of disease phenotypes and pathophysiology as well as disease modeling in human cells.
Ⅲ型黏多糖贮积症B型（MPS IIIB）是一种溶酶体贮积病，由编码N - 乙酰氨基葡萄糖苷酶的NAGLU基因突变引起。在此，我们报告了从一名MPS IIIB患者的皮肤成纤维细胞中生成人诱导多能干细胞（iPSC）系的过程。该iPSC系在NAGLU基因第457位核苷酸处发生了G>A颠换的纯合突变（457G>A），导致第153密码子处谷氨酸被赖氨酸替代（Glu153Lys）。该iPSC系可用于研究疾病表型和病理生理学以及人类细胞中的疾病建模。
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