Uniparental disomy of the entire X chromosome in Turner syndrome patient-specific induced pluripotent stem cells.

ABSTRACT: The human induced pluripotent stem cell (iPSC) technique promises to provide an unlimited, reliable source of genetically matched pluripotent cells for personalized therapy and disease modeling. Recently, it is observed that cells with ring chromosomes 13 or 17 autonomously correct the defects via compensatory uniparental disomy during cellular reprogramming to iPSCs. This breakthrough finding suggests a potential therapeutic approach to repair large-scale chromosomal aberrations. However, due to the scarceness of ring chromosome samples, the reproducibility of this approach in different individuals is not carefully evaluated yet. Moreover, the underlying mechanism and the applicability to other types of chromosomal aberrations remain unknown. Here we generated iPSCs from four 45,X chorion

SUBMITTER: Luo Y 

PROVIDER: S-EPMC4860828 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature