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

Stem Cell Res. 2022 Apr:60:102728. doi: 10.1016/j.scr.2022.102728. Epub 2022 Feb 25.

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Azoospermia* / genetics
  • Cell Cycle Proteins / genetics
  • Disease Models, Animal
  • Frameshift Mutation
  • Humans
  • Induced Pluripotent Stem Cells*
  • Male
  • Mice
  • Mutation

Substances

  • Cell Cycle Proteins
  • TEX11 protein, human

Supplementary concepts

  • Azoospermia, Nonobstructive