Wang Xiaotong, Xie Shiming, Li Zili, Ye Zhen, Gu Xiuli, Zhou Liquan, Li Honggang
Institute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China.
Institute of Reproductive Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China; Wuhan Tongji Reproductive Medicine Hospital, Wuhan, Hubei 430013, China.
Stem Cell Res. 2020 Jan;42:101703. doi: 10.1016/j.scr.2020.101703. Epub 2020 Jan 22.
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.
唯支持细胞综合征（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疾病的病因。从一名携带PIWIL2基因突变的SCOS患者产生的诱导多能干细胞系表达多能性标志物，具有正常的核型以及PIWIL2基因中的c.731_732delAT突变，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。
