Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene
从患有唯塞托利细胞综合征且携带 PIWIL2 基因 c.731_732delAT 的患者的成纤维细胞中生成 iPSC 系 (HUSTi002-A)
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作者:Xiaotong Wang, Shiming Xie, Zili Li, Zhen Ye, Xiuli Gu, Liquan Zhou, Honggang Li
| 期刊: | Stem Cell Research | 影响因子: | 0.800 |
| 时间: | 2020 | 起止号: | 2020 Jan:42:101703. |
| doi: | 10.1016/j.scr.2020.101703 | 研究方向: | 细胞生物学 |
| 细胞类型: | 成纤维细胞 | |
Abstract
Sertoli cell-only syndrome (SCOS) is a severe phenotype of male infertility; autosomal gene defects are thought to be the causes for this disease. The iPSC line generated from a SCOS patient carrying a mutation in PIWIL2 gene expresses pluripotent markers, has a normal karyotype and the mutation c.731_732delAT in PIWIL2 gene and is able to differentiate into three germ layers. This cell line will help to study the pathogenesis of SCOS, and the roles of PIWIL2 in human germ cells development and spermatogenesis.
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