Generation of two iPSC lines (KAUSTi001-A, KAUSTi002-A) from a rare high-grade Klinefelter Syndrome patient (49-XXXXY) carrying a balanced translocation t(4,11) (q35,q23).

Maryam Alowaysi; Elisabetta Fiacco; Veronica Astro; Antonio Adamo

doi:10.1016/j.scr.2020.102098

Generation of two iPSC lines (KAUSTi001-A, KAUSTi002-A) from a rare high-grade Klinefelter Syndrome patient (49-XXXXY) carrying a balanced translocation t(4,11) (q35,q23).

Maryam Alowaysi, Elisabetta Fiacco, Veronica Astro, Antonio Adamo

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

2 Scopus citations

Abstract

Klinefelter Syndrome (KS) is the most common aneuploidy in humans (prevalence: 85-250 per 100,000 born males) and is characterized by one or more supernumerary X-chromosomes (47-XXY, 48-XXXY and 49-XXXXY karyotypes). KS is a multisystemic disorder associated to multiple phenotypic features including cardiac abnormalities, infertility, mental retardation, diabetes and increased cancer risk. Using a non-integrative mRNAs reprogramming approach, we generated two iPSC lines 48-XXXY and 49-XXXXY from a non-mosaic 49-XXXXY KS patient carrying a balanced translocation t(4,11) (q35,q23). These iPSC lines provide a unique cellular platform to study the molecular mechanisms underlying KS pathophysiology.

Original language	English (US)
Pages (from-to)	102098
Journal	Stem Cell Research
Volume	49
DOIs	https://doi.org/10.1016/j.scr.2020.102098
State	Published - Nov 30 2020

Bibliographical note

KAUST Repository Item: Exported on 2020-12-03
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 Repositories: GM00157. We also acknowledge WiCell as the original source of the WA16 hESC line.

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10.1016/j.scr.2020.102098

https://repository.kaust.edu.sa/bitstream/10754/666217/1/Generation%20of.pdf

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@article{7ee7fa1d74d0436f9a5a11d554ab2099,

title = "Generation of two iPSC lines (KAUSTi001-A, KAUSTi002-A) from a rare high-grade Klinefelter Syndrome patient (49-XXXXY) carrying a balanced translocation t(4,11) (q35,q23).",

abstract = "Klinefelter Syndrome (KS) is the most common aneuploidy in humans (prevalence: 85-250 per 100,000 born males) and is characterized by one or more supernumerary X-chromosomes (47-XXY, 48-XXXY and 49-XXXXY karyotypes). KS is a multisystemic disorder associated to multiple phenotypic features including cardiac abnormalities, infertility, mental retardation, diabetes and increased cancer risk. Using a non-integrative mRNAs reprogramming approach, we generated two iPSC lines 48-XXXY and 49-XXXXY from a non-mosaic 49-XXXXY KS patient carrying a balanced translocation t(4,11) (q35,q23). These iPSC lines provide a unique cellular platform to study the molecular mechanisms underlying KS pathophysiology.",

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

note = "KAUST Repository Item: Exported on 2020-12-03 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 Repositories: GM00157. We also acknowledge WiCell as the original source of the WA16 hESC line.",

year = "2020",

month = nov,

day = "30",

doi = "10.1016/j.scr.2020.102098",

language = "English (US)",

volume = "49",

pages = "102098",

journal = "Stem Cell Research",

issn = "1873-5061",

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T1 - Generation of two iPSC lines (KAUSTi001-A, KAUSTi002-A) from a rare high-grade Klinefelter Syndrome patient (49-XXXXY) carrying a balanced translocation t(4,11) (q35,q23).

AU - Alowaysi, Maryam

AU - Fiacco, Elisabetta

AU - Astro, Veronica

AU - Adamo, Antonio

N1 - KAUST Repository Item: Exported on 2020-12-03 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 Repositories: GM00157. We also acknowledge WiCell as the original source of the WA16 hESC line.

PY - 2020/11/30

Y1 - 2020/11/30

N2 - Klinefelter Syndrome (KS) is the most common aneuploidy in humans (prevalence: 85-250 per 100,000 born males) and is characterized by one or more supernumerary X-chromosomes (47-XXY, 48-XXXY and 49-XXXXY karyotypes). KS is a multisystemic disorder associated to multiple phenotypic features including cardiac abnormalities, infertility, mental retardation, diabetes and increased cancer risk. Using a non-integrative mRNAs reprogramming approach, we generated two iPSC lines 48-XXXY and 49-XXXXY from a non-mosaic 49-XXXXY KS patient carrying a balanced translocation t(4,11) (q35,q23). These iPSC lines provide a unique cellular platform to study the molecular mechanisms underlying KS pathophysiology.

AB - Klinefelter Syndrome (KS) is the most common aneuploidy in humans (prevalence: 85-250 per 100,000 born males) and is characterized by one or more supernumerary X-chromosomes (47-XXY, 48-XXXY and 49-XXXXY karyotypes). KS is a multisystemic disorder associated to multiple phenotypic features including cardiac abnormalities, infertility, mental retardation, diabetes and increased cancer risk. Using a non-integrative mRNAs reprogramming approach, we generated two iPSC lines 48-XXXY and 49-XXXXY from a non-mosaic 49-XXXXY KS patient carrying a balanced translocation t(4,11) (q35,q23). These iPSC lines provide a unique cellular platform to study the molecular mechanisms underlying KS pathophysiology.

UR - http://hdl.handle.net/10754/666217

UR - https://linkinghub.elsevier.com/retrieve/pii/S1873506120303998

U2 - 10.1016/j.scr.2020.102098

DO - 10.1016/j.scr.2020.102098

M3 - Article

C2 - 33254093

SN - 1873-5061

VL - 49

SP - 102098

JO - Stem Cell Research

JF - Stem Cell Research

ER -

Generation of two iPSC lines (KAUSTi001-A, KAUSTi002-A) from a rare high-grade Klinefelter Syndrome patient (49-XXXXY) carrying a balanced translocation t(4,11) (q35,q23).

Abstract

Bibliographical note

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