Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene

被引:5
|
作者
Hong, Junjie [1 ]
Xu, Miao [1 ]
Li, Rong [1 ]
Cheng, Yu-Shan [1 ]
Kouznetsova, Jennifer [1 ]
Beers, Jeanette [2 ]
Liu, Chengyu [3 ]
Zou, Jizhong [2 ]
Zheng, Wei [1 ]
机构
[1] NIH, Natl Ctr Advancing Translat Sci, 9800 Med Ctr Dr,MSC 3375, Bethesda, MD 20892 USA
[2] NHLBI, iPSC Core, NIH, Bldg 10, Bethesda, MD 20892 USA
[3] NHLBI, Transgen Core, NIH, Bldg 10, Bethesda, MD 20892 USA
基金
美国国家卫生研究院;
关键词
MUCOPOLYSACCHARIDOSIS TYPE-II;
D O I
10.1016/j.scr.2019.101451
中图分类号
Q813 [细胞工程];
学科分类号
摘要
Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S). This is a multisystem disorder with significant variation in symptoms. Here, we document a human induced pluripotent stem cell (iPSC) line generated from dermal fibroblasts of a patient with Hunter syndrome containing a hemizygous mutation of a 1 bp insertion at nucleotide 208 in exon 2 of the IDS gene. The generation of this line will allow development of cell-based models for drug development, as well as the study of disease pathophysiology.
引用
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页数:4
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