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

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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)

Journal article

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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 and Antonio Adamo

Stem cell research, Vol.49, pp.102098-102098

01/12/2020

DOI: https://doi.org/10.1016/j.scr.2020.102098

PMID: 33254093

Abstract

Biotechnology & Applied Microbiology

Cell & Tissue Engineering

Cell Biology

Life Sciences & Biomedicine

Science & Technology

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.

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Title: 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)
Creators - without role: Maryam Alowaysi - King Abdullah University of Science and Technology
Elisabetta Fiacco - King Abdullah University of Science and Technology
Veronica Astro - King Abdullah University of Science and Technology
Antonio Adamo - King Abdullah University of Science and Technology
Publication Details: Stem cell research, Vol.49, pp.102098-102098
Publisher: Elsevier
Number of pages: 4
Grant note: RGC/3/3628-01 / King Abdulaziz City for Science and Technology (KACST) BAS 107701-01 / KAUST; King Abdullah University of Science & Technology
Identifiers: 9941591108331
Academic Unit: King Abdullah University of Science & Technology
Language: English
Resource Type: Journal article