Establishment of an iPSC cohort from three unrelated 47-XXY Klinefelter Syndrome patients (KAUSTi007-A, KAUSTi007-B, KAUSTi009-A, KAUSTi009-B, KAUSTi010-A, KAUSTi010-B)

Maryam Alowaysi; Elisabetta Fiacco; Veronica Astro; Antonio Adamo

doi:10.1016/j.scr.2020.102042

Establishment of an iPSC cohort from three unrelated 47-XXY Klinefelter Syndrome patients (KAUSTi007-A, KAUSTi007-B, KAUSTi009-A, KAUSTi009-B, KAUSTi010-A, KAUSTi010-B)

Maryam Alowaysi, Elisabetta Fiacco, Veronica Astro, Antonio Adamo^*

^*Corresponding author for this work

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

3 Scopus citations

Abstract

Klinefelter Syndrome (KS) is caused by the presence of a supernumerary X chromosome. Cytogenetic studies revaled that 80–90% of patients carry a 47-XXY karyotype, while 10–20% of cases are represented by mosaic 46-XY/47-XXY and high-grade aneuploidies 48-XXXY and 48-XXYY. The phenotypic traits of KS are highly variable across individuals and include cognitive dysfunction, metabolic dysregulation, osteoporosis, and cardiovascular diseases. Here, we describe the derivation of multiple 47-XXY iPSC lines from three unrelated KS patients to study the impact of supernumerary X chromosome during early development.

Original language	English (US)
Article number	102042
Journal	Stem Cell Research
Volume	49
DOIs	https://doi.org/10.1016/j.scr.2020.102042
State	Published - Dec 2020

Bibliographical note

Publisher Copyright:
© 2020 The Author(s)

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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title = "Establishment of an iPSC cohort from three unrelated 47-XXY Klinefelter Syndrome patients (KAUSTi007-A, KAUSTi007-B, KAUSTi009-A, KAUSTi009-B, KAUSTi010-A, KAUSTi010-B)",

abstract = "Klinefelter Syndrome (KS) is caused by the presence of a supernumerary X chromosome. Cytogenetic studies revaled that 80–90% of patients carry a 47-XXY karyotype, while 10–20% of cases are represented by mosaic 46-XY/47-XXY and high-grade aneuploidies 48-XXXY and 48-XXYY. The phenotypic traits of KS are highly variable across individuals and include cognitive dysfunction, metabolic dysregulation, osteoporosis, and cardiovascular diseases. Here, we describe the derivation of multiple 47-XXY iPSC lines from three unrelated KS patients to study the impact of supernumerary X chromosome during early development.",

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

note = "Publisher Copyright: {\textcopyright} 2020 The Author(s)",

year = "2020",

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doi = "10.1016/j.scr.2020.102042",

language = "English (US)",

volume = "49",

journal = "Stem Cell Research",

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AU - Alowaysi, Maryam

AU - Fiacco, Elisabetta

AU - Astro, Veronica

AU - Adamo, Antonio

PY - 2020/12

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AB - Klinefelter Syndrome (KS) is caused by the presence of a supernumerary X chromosome. Cytogenetic studies revaled that 80–90% of patients carry a 47-XXY karyotype, while 10–20% of cases are represented by mosaic 46-XY/47-XXY and high-grade aneuploidies 48-XXXY and 48-XXYY. The phenotypic traits of KS are highly variable across individuals and include cognitive dysfunction, metabolic dysregulation, osteoporosis, and cardiovascular diseases. Here, we describe the derivation of multiple 47-XXY iPSC lines from three unrelated KS patients to study the impact of supernumerary X chromosome during early development.

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Establishment of an iPSC cohort from three unrelated 47-XXY Klinefelter Syndrome patients (KAUSTi007-A, KAUSTi007-B, KAUSTi009-A, KAUSTi009-B, KAUSTi010-A, KAUSTi010-B)

Abstract

Bibliographical note

ASJC Scopus subject areas

UN SDGs

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