Abstract
Klinefelter Syndrome (KS) is caused by the presence of a supernumeraryXchromosome. 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 supernumeraryXchromosome during early development.
Highlights
Institution Contact information of distributor Type of cell lines Origin Cell Source Clonality Method of reprogramming
About 5 × 104 –10 × 104 cells/well were seeded on 6-well plates coated with iMatrix in fibroblast expansion medium for 24 h before reprogramming
Following Stemgent® StemRNA-NM Reprogramming Kit, 1.8 μg Synthetic NM-RNAs was used for daily transfection in NutriStem® hPSC XF medium (Stemgent) for four consecutive days
Summary
Registered in the Human Pluripotent Stem Cell Registry (https://hpscreg.eu/) The study was approved by the King Abdullah University of Science and Technology Institutional Biosafety and Bioethics Committee, Approval number: 17IBEC14. The original fibroblasts have been obtained from Telethon Cell Repository (http://biobanknetwork.telethon.it)
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