Induced pluripotent stem cell line from a mouse model of human azoospermia with a frameshift mutation Tex11_1260Ins(TT)

来自患有人类无精子症的小鼠模型(具有移码突变 Tex11_1260Ins(TT))的诱导多能干细胞系

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Abstract

Infertility is a common disease that impacts 15% of reproductive age couples worldwide, and genetic causes are implicated in about half of those cases. Non-obstructive azoospermia is a severe form of male infertility that features spermatogenic failure resulting in no sperm in the ejaculate and severely reduces the chance to have biological children. We created a Tex11_1260Ins(TT) (1260GATA → TTGGTA) mutant mouse that models the Tex11_1258(TT) mutation identified from a patient with nonobstructive azoospermia. The Tex11_1260Ins(TT) iPSC cells displayed characteristics of pluripotent-like morphology, expressed pluripotent protein markers, show normal karyotype, and can to differentiate into tissues of the three germ layers.

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