Derivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY)


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Fiacco E, Alowaysi M, Astro V, Adamo A
Journal Stem cell research
Publication Date 2020 Dec;49:102049
PubMed 33096382
DOI 10.1016/j.scr.2020.102049

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