Abstract
Klinefelter Syndrome (KS) is the most frequentXchromosome 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.
Highlights
Institution Contact information of distributor Type of cell lines Origin Cell Source Clonality Method of reprogramming
Gene-to-phenotype correlation studies to link the overdosage of Xlinked genes and Klinefelter Syndrome (KS) phenotype remain to date inconclusive, mostly due to ranging inter-patient penetrance associated to variable clinical features
Patient-specific induced pluripotent stem cells constitute a primary cellular model to interrogate the impact of gene dosage unbalance on disease-relevant transcriptional dysregulation (Soldner and Jaenisch, 2012)
Summary
Registered in the Human Pluripotent Stem Cell Registry (https://hpscreg.eu/) The study was approved by the King Abdullah University of Science and Technology Institutional Biosafety and Bioethics Committee, Approval number: 17IBEC14. The original fibroblasts have been obtained from NIGMS Human Genetic Cell Repository (https://www.coriell.org/ 1/NIGMS)
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
