<p>Beckwith-Wiedemann Syndrome (BWS) is the most common human imprinting disorder, and phenotypes include hepatomegaly and hepatoblastoma development. In approximately 20% of patients, this syndrome is caused by uniparental isodisomy of the paternal allele across chromosome 11p15 (pUPD11). From fibroblasts cultured from 2 BWS patients with pUPD11, we derived induced pluripotent stem cells (iPSC) and differentiated to hepatocytes to study a model of the BWS liver transcriptome through RNA-Seq. Compared to 2 similarly derived controls, we observed differential expression in insulin signaling, cell proliferation, and cell cycle pathways, indicating their potential importance in the liver overgrowth and oncogenesis associated with BWS.</p>

Derivation and Investigation of The First Human Cell-Based Model of    Beckwith-Wiedemann Syndrome

1 selected publication including "Derivation and investigation of the first human cell-based model of Be..." (6 citations)

Derivation and Investigation of The First Human Cell-Based Model of Beckwith-Wiedemann Syndrome

Derivation and investigation of the first human cell-based model of Beckwith-Wiedemann syndrome