Derivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY).

Elisabetta Fiacco; Maryam Alowaysi; Veronica Astro; Antonio Adamo

doi:10.1016/j.scr.2020.102049

Derivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY).

Elisabetta Fiacco, Maryam Alowaysi, Veronica Astro, Antonio Adamo

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

6 Scopus citations

Abstract

While Klinefelter Syndrome (KS) has a prevalence of 85-250 per 100,000 born males, patients are typically underdiagnosed due to a subtle phenotype emerging only late during puberty or adulthood. Rare cases of KS carry a mosaic phenotype 47-XXY/46-XY associated to mild phenotypic traits mostly compatible with a normal life including preserved fertility. From a genetic modeling perspective, the derivation of naturally isogenic iPSCs from mosaic patients allows the comparison of disease and healthy cells carrying a virtually identical genomic background.

Original language	English (US)
Pages (from-to)	102049
Journal	Stem Cell Research
Volume	49
DOIs	https://doi.org/10.1016/j.scr.2020.102049
State	Published - Oct 23 2020

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https://repository.kaust.edu.sa/bitstream/10754/665689/1/derivation%20of.pdf

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@article{9c5726525cbe432e9b15c652ad87b381,

title = "Derivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY).",

abstract = "While Klinefelter Syndrome (KS) has a prevalence of 85-250 per 100,000 born males, patients are typically underdiagnosed due to a subtle phenotype emerging only late during puberty or adulthood. Rare cases of KS carry a mosaic phenotype 47-XXY/46-XY associated to mild phenotypic traits mostly compatible with a normal life including preserved fertility. From a genetic modeling perspective, the derivation of naturally isogenic iPSCs from mosaic patients allows the comparison of disease and healthy cells carrying a virtually identical genomic background.",

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

note = "KAUST Repository Item: Exported on 2020-10-29 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 Telethon Network of Genetic Biobanks: 64137.",

year = "2020",

month = oct,

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doi = "10.1016/j.scr.2020.102049",

language = "English (US)",

volume = "49",

pages = "102049",

journal = "Stem Cell Research",

issn = "1873-5061",

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TY - JOUR

T1 - Derivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY).

AU - Fiacco, Elisabetta

AU - Alowaysi, Maryam

AU - Astro, Veronica

AU - Adamo, Antonio

N1 - KAUST Repository Item: Exported on 2020-10-29 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 Telethon Network of Genetic Biobanks: 64137.

PY - 2020/10/23

Y1 - 2020/10/23

N2 - While Klinefelter Syndrome (KS) has a prevalence of 85-250 per 100,000 born males, patients are typically underdiagnosed due to a subtle phenotype emerging only late during puberty or adulthood. Rare cases of KS carry a mosaic phenotype 47-XXY/46-XY associated to mild phenotypic traits mostly compatible with a normal life including preserved fertility. From a genetic modeling perspective, the derivation of naturally isogenic iPSCs from mosaic patients allows the comparison of disease and healthy cells carrying a virtually identical genomic background.

AB - While Klinefelter Syndrome (KS) has a prevalence of 85-250 per 100,000 born males, patients are typically underdiagnosed due to a subtle phenotype emerging only late during puberty or adulthood. Rare cases of KS carry a mosaic phenotype 47-XXY/46-XY associated to mild phenotypic traits mostly compatible with a normal life including preserved fertility. From a genetic modeling perspective, the derivation of naturally isogenic iPSCs from mosaic patients allows the comparison of disease and healthy cells carrying a virtually identical genomic background.

UR - http://hdl.handle.net/10754/665689

UR - https://linkinghub.elsevier.com/retrieve/pii/S1873506120303500

UR - http://www.scopus.com/inward/record.url?scp=85092925623&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2020.102049

DO - 10.1016/j.scr.2020.102049

M3 - Article

C2 - 33096382

SN - 1873-5061

VL - 49

SP - 102049

JO - Stem Cell Research

JF - Stem Cell Research

ER -

Derivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY).

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