Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene
从携带 IDS 基因半合子 208insC 突变的 Hunter 综合征患者体内生成诱导性多能干细胞系 (TRNDi008-A)
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作者:Junjie Hong, Miao Xu, Rong Li, Yu-Shan Cheng, Jennifer Kouznetsova, Jeanette Beers, Chengyu Liu, Jizhong Zou, Wei Zheng
| 期刊: | Stem Cell Research | 影响因子: | 0.800 |
| 时间: | 2019 | 起止号: | 2019 May:37:101451. |
| doi: | 10.1016/j.scr.2019.101451 | 方法学: | Cell sorting、FCM |
| 研究方向: | 发育与干细胞 | 细胞类型: | 干细胞 |
Abstract
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.
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