hiPSCs could be used to model epigenetic human disorders such as the neurological Prader-Willi Syndrome (PWS), which results from maternal uniparental disomy of chromosome 15. Characterization of the parthogenetic PSCs and iPSCs from PWS patients revealed specific maternal expression of the DLK1-DIO3 locus in chromosome 14. The data suggest that an imprinted gene can work in trans, because the loss of expression of IPW, an imprinted long noncoding RNA in the PWS region, is a regulator of DLK1-DIO3 region. This supports a working model that paternal chromosome 15 mutation in PWS leads to loss of IPW and subsequent upregulation of maternal genes (Stelzer et al., 2014).
