Stem Cell Research (Apr 2022)

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

  • Kien T.D. Tran,
  • Yi Sheng,
  • Chatchanan Doungkamchan,
  • Carlo A. Castro,
  • Kyle E. Orwig

Journal volume & issue
Vol. 60
p. 102728

Abstract

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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.