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We identified mutations in VCL associated with S-HSCR. Correction of this mutation in iPSC using CRISPR/Cas9 editing, as well as the RET G731del mutation that causes Hirschsprung disease with total colonic aganglionosis, restored ENCC function. Our study demonstrates how human iPSCs can be used to identify disease-associated mutations and determine how they affect cell functions and contribute to pathogenesis.

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hPSC hNC hNP in vivo in vitro E13.5 mouse gut mNC & mNP Developmental trajectories of mouse & human NC Hh signaling favors the development of mouse and human NC scRNA-seq E13.5 Tg(GBS-GFP) Hh ON Hh OFF vs UGCAUCAAU UCCGGAUCA CAUCCAUCA ACAUCCAUC scRNA-seq scR Sufu cKO Ptch1 cKO Gli3 Repressor validation hPSC +/-SAG In vitro differentiation Innervated HCOs