Generation of an iPSC cohort of isogenic iPSC lines (46-XY and 47-XXY) from a non-mosaic Klinefelter Syndrome patient (47-XXY) (KAUSTi008-A, KAUSTi008-B, KAUSTi008-C, KAUSTi008-D, KAUSTi008-E, KAUSTi008-F, KAUSTi008-G)

Elisabetta Fiacco; Maryam Alowaysi; Veronica Astro; Antonio Adamo

doi:10.1016/j.scr.2020.102119

Generation of an iPSC cohort of isogenic iPSC lines (46-XY and 47-XXY) from a non-mosaic Klinefelter Syndrome patient (47-XXY) (KAUSTi008-A, KAUSTi008-B, KAUSTi008-C, KAUSTi008-D, KAUSTi008-E, KAUSTi008-F, KAUSTi008-G)

Stem Cell Res. 2020 Dec 10:50:102119. doi: 10.1016/j.scr.2020.102119. Online ahead of print.

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: 33333453
DOI: 10.1016/j.scr.2020.102119

Abstract

Klinefelter Syndrome (KS) is the most common X chromosome aneuploidy in males characterized by highly heterogeneous clinical manifestations including a subtle cognitive impairment and multisystemic disorders such as infertility, metabolic syndrome, gynecomastia and cardiovascular diseases. To date dosage-dependent correlation studies of X-linked genes and low- and high-grade KS clinical phenotypes have not been performed. Here we generated multiple isogenic 47-XXY and 46-XY iPSC lines from one 47-XXY patient. Leveraging on a fully matched genetic background, our cohort represents a highly informative tool to study the impact of X chromosome dosage on KS pathophysiology.