Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene.
Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene.
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从 PIWIL2 基因中携带 c.731_732delAT 的纯支持细胞综合征患者的成纤维细胞中生成 iPSC 系 (HUSTi002-A)。
DOI：
10.1016/j.scr.2020.101703
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发表时间：
2020
影响因子：
1.2
通讯作者：
Honggang Li
中科院分区：
文献类型：
--
作者：
Xiaotong Wang;Shi;Zili Li;Zhen Ye;Xiuli Gu;Li;Honggang Li
仅支持细胞综合征（SCOS）是男性不育的一种严重表型；常染色体基因缺陷被认为是该病的病因。从携带PIWIL2基因突变的SCOS患者产生的iPSC系表达多能性标记，具有正常的核型和PIWIL2基因突变c.731_732delAT，并且能够分化为三个胚层。该细胞系将有助于研究SCOS的发病机制，以及PIWIL2在人类生殖细胞发育和精子发生中的作用。
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.
影响因子：
64.5
作者：
Takahashi, Kazutoshi;Tanabe, Koji;Yamanaka, Shinya
通讯作者：
Yamanaka, Shinya