Establishment of an iPSC cohort from three unrelated 47-XXY Klinefelter Syndrome patients (KAUSTi007-A, KAUSTi007-B, KAUSTi009-A, KAUSTi009-B, KAUSTi010-A, KAUSTi010-B)
Summary
Klinefelter Syndrome (KS) is caused by the presence of a supernumerary X chromosome. Cytogenetic studies revaled that 80-90% of patients carry a 47-XXY karyotype, while 10-20% of cases are represented by mosaic 46-XY/47-XXY and high-grade aneuploidies 48-XXXY and 48-XXYY. The phenotypic traits of KS are highly variable across individuals and include cognitive dysfunction, metabolic dysregulation, osteoporosis, and cardiovascular diseases. Here, we describe the derivation of multiple 47-XXY iPSC lines from three unrelated KS patients to study the impact of supernumerary X chromosome during early development. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Alowaysi M, Fiacco E, Astro V, Adamo A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Dec;49:102042 |
| PubMed | 33068889 |
| DOI | 10.1016/j.scr.2020.102042 |