Derivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY).
Type
Article
KAUST Department
Biological and Environmental Sciences and Engineering (BESE) DivisionBioscience Program
KAUST Grant Number
BAS 1077-01-01Date
2020-10-15Online Publication Date
2020-10-15Print Publication Date
2020-12Submitted Date
2020-09-07Permanent link to this record
http://hdl.handle.net/10754/665689Metadata
Show full item recordAbstract
While Klinefelter Syndrome (KS) has a prevalence of 85-250 per 100,000 born males, patients are typically underdiagnosed due to a subtle phenotype emerging only late during puberty or adulthood. Rare cases of KS carry a mosaic phenotype 47-XXY/46-XY associated to mild phenotypic traits mostly compatible with a normal life including preserved fertility. From a genetic modeling perspective, the derivation of naturally isogenic iPSCs from mosaic patients allows the comparison of disease and healthy cells carrying a virtually identical genomic background.Citation
Fiacco, E., Alowaysi, M., Astro, V., & Adamo, A. (2020). Derivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY). Stem Cell Research, 49, 102049. doi:10.1016/j.scr.2020.102049Sponsors
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 line was obtained from Telethon Network of Genetic Biobanks: 64137.Publisher
Elsevier BVJournal
Stem cell researchPubMed ID
33096382Additional Links
https://linkinghub.elsevier.com/retrieve/pii/S1873506120303500Scopus Count
Except where otherwise noted, this item's license is described as This is an open access article under the CC BY license .