TY - JOUR
T1 - 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).
AU - Alowaysi, Maryam
AU - Fiacco, Elisabetta
AU - Astro, Veronica
AU - Adamo, Antonio
N1 - KAUST Repository Item: Exported on 2020-11-03
Acknowledged KAUST grant number(s): BAS 1077-01-01
Acknowledgements: This work was funded by KAUST baseline (Grant number BAS 1077-01-01) to A.A. and King Abdulaziz City for Science and Technology (KACST) (Grant number RGC/3/3628-01) to M.A. and A.A. The following cell lines were obtained from Telethon Network of Genetic Biobanks: 25664, 66257, 78816. M.A. set up human iPSC reprogramming and culture. M.A. and E.F. established, cultured and characterized the iPSC lines and differentiated derivatives. E.F. performed karyotyping cell preparation and histopathological analysis of teratomas. V.A. provided cell culture, imaging and graphical support. M.A, E.F. V. A. and A.A. wrote the manuscript. A.A. conceived, designed and supervised the study.
PY - 2020/10/17
Y1 - 2020/10/17
N2 - 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.
AB - 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.
UR - http://hdl.handle.net/10754/665753
UR - https://linkinghub.elsevier.com/retrieve/pii/S1873506120303433
UR - http://www.scopus.com/inward/record.url?scp=85092500720&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2020.102042
DO - 10.1016/j.scr.2020.102042
M3 - Article
C2 - 33068889
SN - 1873-5061
VL - 49
SP - 102042
JO - Stem Cell Research
JF - Stem Cell Research
ER -
