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.

Klinefelter综合征（KS）是男性中最常见的X染色体非整倍性。具有47-XXY，48-XXXY和49-XXXXY核型的KS患者承受个体间的表型变异，包括不育，心脏病，代谢和精神疾病。我们从高档49-XXXXY KS和两名健康供体的成纤维细胞中获得了iPSC品系。重要的是，健康对照XY和XX是KS患者的直接亲属，因此可以比较具有部分匹配遗传背景的健康和疾病iPSC的功能。这些iPSC品系为研究多能阶段以及分化为疾病相关细胞类型期间的KS病理生理提供了前所未有的细胞工具。