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)

Elisabetta Fiacco; Maryam Alowaysi; Veronica Astro; Antonio Adamo

doi:10.1016/j.scr.2020.102119

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)

Elisabetta Fiacco, Maryam Alowaysi, Veronica Astro, Antonio Adamo

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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.

Original language	English (US)
Pages (from-to)	102119
Journal	Stem Cell Research
DOIs	https://doi.org/10.1016/j.scr.2020.102119
State	Published - Dec 2020

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@article{0249ef9a3eb0464c8d66e8c16abdee03,

title = "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)",

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.",

author = "Elisabetta Fiacco and Maryam Alowaysi and Veronica Astro and Antonio Adamo",

note = "KAUST Repository Item: Exported on 2020-12-16 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 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.",

year = "2020",

month = dec,

doi = "10.1016/j.scr.2020.102119",

language = "English (US)",

pages = "102119",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

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). / Fiacco, Elisabetta; Alowaysi, Maryam; Astro, Veronica et al.
In: Stem Cell Research, 12.2020, p. 102119.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - 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)

AU - Fiacco, Elisabetta

AU - Alowaysi, Maryam

AU - Astro, Veronica

AU - Adamo, Antonio

N1 - KAUST Repository Item: Exported on 2020-12-16 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 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.

PY - 2020/12

Y1 - 2020/12

N2 - 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.

AB - 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.

UR - http://hdl.handle.net/10754/666353

UR - https://linkinghub.elsevier.com/retrieve/pii/S1873506120304207

U2 - 10.1016/j.scr.2020.102119

DO - 10.1016/j.scr.2020.102119

M3 - Article

C2 - 33333453

SN - 1873-5061

SP - 102119

JO - Stem Cell Research

JF - Stem Cell Research

ER -

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)

Abstract

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