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

License
http://creativecommons.org/licenses/BY/4.0/

Type
Article

Authors
Fiacco, Elisabetta
Alowaysi, Maryam
Astro, Veronica
Adamo, Antonio

KAUST Department
Biological and Environmental Sciences and Engineering (BESE) Division
Bioscience Program

KAUST Grant Number
BAS 1077-01-01

Online Publication Date
2020-10-15

Print Publication Date
2020-12

Date
2020-10-15

Submitted Date
2020-09-07

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.

Citation
Fiacco, E., Alowaysi, M., Astro, V., & Adamo, A. (2020). Derivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY). Stem Cell Research, 49, 102049. doi:10.1016/j.scr.2020.102049

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.

Publisher
Elsevier BV

Journal
Stem cell research

DOI
10.1016/j.scr.2020.102049

PubMed ID
33096382

Additional Links
https://linkinghub.elsevier.com/retrieve/pii/S1873506120303500

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