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

doi:10.1016/j.scr.2020.102049

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

Stem Cell Res. 2020 Dec:49:102049. doi: 10.1016/j.scr.2020.102049. Epub 2020 Oct 15.

Authors

Elisabetta Fiacco¹, Maryam Alowaysi¹, Veronica Astro¹, Antonio Adamo²

Affiliations

¹ Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.
² Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia. Electronic address: antonio.adamo@kaust.edu.sa.

PMID: 33096382
DOI: 10.1016/j.scr.2020.102049

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Humans
Induced Pluripotent Stem Cells*
Klinefelter Syndrome* / genetics
Male
Mosaicism
Puberty