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^*

^*Corresponding author for this work

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

7 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)
Article number	102049
Journal	Stem Cell Research
Volume	49
DOIs	https://doi.org/10.1016/j.scr.2020.102049
State	Published - Dec 2020

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© 2020 The Authors

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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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.",

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AU - Alowaysi, Maryam

AU - Astro, Veronica

AU - Adamo, Antonio

PY - 2020/12

Y1 - 2020/12

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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.

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

Abstract

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