Generation of patient-specific iPSCs for Hirschsprung's disease modelling

Abstract

Hirschsprung’s (HSCR) disease is a congenital disorder of the colon in which certain nerve cells are absent due to incomplete colonization of bowel with enteric neural crest (NC) cells, causing chronic constipation. RET gene encodes for a tyrosine kinase receptor and is highly implicated in the neural crest development. Mutations or genetic variants in RET have accounted for most of the HSCR cases. In particular, a single nucleotide polymorphisms (SNP, rs2435362) residing in the intron one of RET gene are predominantly found in HSCR, which may cause a reduced c-RET expression in patient. In this study, a HSCR patient carrying a risk allele T in rs2435362 ...