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Article

Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene.

Stem cell research - 1 Jan 2020

Wang Xiaotong, Xie Shiming, Li Zili, Ye Zhen, Gu Xiuli, Zhou Liquan, Li Honggang

Abstract excerpt

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...

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PMID: 32006804
DOI: 10.1016/j.scr.2020.101703

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