학술논문
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).
Document Type
Academic Journal
Author
Fiacco E; Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955 6900, Saudi Arabia.; Alowaysi M; Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955 6900, Saudi Arabia.; Astro V; Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955 6900, Saudi Arabia.; Adamo A; 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.
Source
Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: PubMed not MEDLINE; MEDLINE
Subject
Language
English
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.
(Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.)
(Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.)