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.
Original language | English (US) |
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Article number | 102098 |
Journal | Stem Cell Research |
Volume | 49 |
DOIs | |
State | Published - Dec 2020 |
ASJC Scopus subject areas
- Developmental Biology
- Cell Biology