Ontology highlight
ABSTRACT:
SUBMITTER: Ma Y
PROVIDER: S-EPMC3493938 | biostudies-literature | 2012 Nov
REPOSITORIES: biostudies-literature
Ma Yu Y Li Chunliang C Gu Junjie J Tang Fan F Li Chun C Li Peng P Ping Ping P Yang Shi S Li Zheng Z Jin Ying Y
The Journal of biological chemistry 20120927 46
Klinefelter syndrome (KS) is the most common male chromosome aneuploidy. Its pathophysiology is largely unexplained due to the lack of adequate models. Here, we report the derivation of induced pluripotent stem cell (iPSCs) lines from a KS patient with a karyotype of 47, XXY. Derived KS-iPSCs meet all criteria of normal iPSCs with the potential for germ cell differentiation. Although X chromosome inactivation occurs in all KS-iPSCs, genome-wide transcriptome analysis identifies aberrantly expres ...[more]