A homozygous PIWIL2 frameshift variant affects the formation and maintenance of human-induced pluripotent stem cell-derived spermatogonial stem cells and causes Sertoli cell-only syndrome


Our study revealed the pivotal role of PIWIL2 in the formation and maintenance of human spermatogonial stem cells. We provided clinical and functional evidence that the LoF variant in PIWIL2 is a genetic cause of SCOS, which supported the potential role of PIWIL2 in genetic diagnosis. Furthermore, our results highlighted the applicability of in vitro differentiation models to function validation experiments. © 2022. The Author(s).

Authors Wang X, Li Z, Qu M, Xiong C, Li H
Journal Stem cell research & therapy
Publication Date 2022 Sep 24;13(1):480
PubMed 36153567
PubMed Central PMC9509617
DOI 10.1186/s13287-022-03175-6

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