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)

Stem Cell Res. 2020 Dec:49:102098. doi: 10.1016/j.scr.2020.102098. Epub 2020 Nov 24.

Authors

Maryam Alowaysi¹, Elisabetta Fiacco¹, Veronica Astro¹, Antonio Adamo²

Affiliations

¹ Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia.
² Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia. Electronic address: antonio.adamo@kaust.edu.sa.

PMID: 33254093
DOI: 10.1016/j.scr.2020.102098

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Aneuploidy
Humans
Induced Pluripotent Stem Cells*
Karyotyping
Klinefelter Syndrome* / genetics
Male
Translocation, Genetic