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)
Type
Article
KAUST Department
Biological and Environmental Sciences and Engineering (BESE) DivisionBioscience Program
KAUST Grant Number
BAS 1077-01-01Date
2020-12Submitted Date
2020-11-16Permanent link to this record
http://hdl.handle.net/10754/666353Metadata
Show full item recordAbstract
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.Citation
Fiacco, E., Alowaysi, M., Astro, V., & Adamo, A. (2020). 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). Stem Cell Research, 102119. doi:10.1016/j.scr.2020.102119Sponsors
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 line was obtained from NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research: GM03102. We also acknowledge WiCell as the original source of the WA16 hESC line.Publisher
Elsevier BVJournal
Stem Cell ResearchAdditional Links
https://linkinghub.elsevier.com/retrieve/pii/S1873506120304207Scopus Count
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