Establishment of iPSC lines from a high-grade Klinefelter Syndrome patient (49-XXXXY) and two genetically matched healthy relatives (KAUSTi003-A, KAUSTi004-A, KAUSTi004-B, KAUSTi005-A, KAUSTi005-B, KAUSTi005-C)

• Published in: Stem cell research Vol. 49; p. 102008
• Main Authors: Alowaysi, Maryam, Fiacco, Elisabetta, Astro, Veronica, Adamo, Antonio
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.12.2020; Elsevier
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2020.102008

Klinefelter Syndrome (KS) is the most frequent X chromosome aneuploidy in males. KS patients with 47-XXY, 48-XXXY and 49-XXXXY karyotypes endure inter-individual phenotypic variabilities including infertility, cardiac diseases, metabolic and psychiatric disorders. We derived iPSC lines from a high-grade 49-XXXXY KS and two healthy donors’ fibroblasts. Importantly, the healthy controls XY and XX are direct relatives to KS patients, thus enabling functional comparisons of healthy and disease iPSCs with partially matched genetic backgrounds. These iPSC lines provide an unprecedented cellular tool to study KS pathophysiology at the pluripotent stage as well as during differentiation into disease relevant cell types.