@article{901520ca7cba48b2954892e63f0c48c1,
title = "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).",
abstract = "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.",
author = "Maryam Alowaysi and Elisabetta Fiacco and Veronica Astro and Antonio Adamo",
note = "KAUST Repository Item: Exported on 2020-10-01 Acknowledged KAUST grant number(s): BAS 1077-01-01 Acknowledgements: This work was funded by KAUST baseline (Grant number BAS 1077-01-01) to A.A. and King Abdulaziz City for Science and Technology (KACST) (Grant number RGC/3/3628-01) to M.A. and A.A. The following cell lines were obtained from NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research: GM00326, GM00321, GM00323.",
year = "2020",
month = sep,
day = "28",
doi = "10.1016/j.scr.2020.102008",
language = "English (US)",
volume = "49",
pages = "102008",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier",
}