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dc.contributor.authorFiacco, Elisabetta
dc.contributor.authorAlowaysi, Maryam
dc.contributor.authorAstro, Veronica
dc.contributor.authorAdamo, Antonio
dc.date.accessioned2020-10-28T12:42:09Z
dc.date.available2020-10-28T12:42:09Z
dc.date.issued2020-10-15
dc.date.submitted2020-09-07
dc.identifier.citationFiacco, 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.2020.102049
dc.identifier.issn1873-5061
dc.identifier.pmid33096382
dc.identifier.doi10.1016/j.scr.2020.102049
dc.identifier.urihttp://hdl.handle.net/10754/665689
dc.description.abstractWhile 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.
dc.description.sponsorshipThis 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.
dc.publisherElsevier BV
dc.relation.urlhttps://linkinghub.elsevier.com/retrieve/pii/S1873506120303500
dc.rightsThis is an open access article under the CC BY license .
dc.rights.urihttp://creativecommons.org/licenses/BY/4.0/
dc.titleDerivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY).
dc.typeArticle
dc.contributor.departmentBiological and Environmental Sciences and Engineering (BESE) Division
dc.contributor.departmentBioscience Program
dc.identifier.journalStem cell research
dc.eprint.versionPublisher's Version/PDF
dc.identifier.volume49
dc.identifier.pages102049
kaust.personFiacco, Elisabetta
kaust.personAlowaysi, Maryam
kaust.personAstro, Veronica
kaust.personAdamo, Antonio
kaust.grant.numberBAS 1077-01-01
dc.date.accepted2020-10-11
dc.identifier.eid2-s2.0-85092925623
refterms.dateFOA2020-10-28T12:42:52Z
dc.date.published-online2020-10-15
dc.date.published-print2020-12


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