Stem Cell Research (Dec 2020)

Derivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY)

  • Elisabetta Fiacco,
  • Maryam Alowaysi,
  • Veronica Astro,
  • Antonio Adamo

Journal volume & issue
Vol. 49
p. 102049

Abstract

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While Klinefelter Syndrome (KS) has a prevalence of 85–250 per 100,000 born males, patients are typically underdiagnosed due to a subtle phenotype emerging only late during puberty or adulthood. Rare cases of KS carry a mosaic phenotype 47-XXY/46-XY associated to mild phenotypic traits mostly compatible with a normal life including preserved fertility. From a genetic modeling perspective, the derivation of naturally isogenic iPSCs from mosaic patients allows the comparison of disease and healthy cells carrying a virtually identical genomic background.