Lai FP, Lau ST, Wong JK, Gui H, Wang RX, Zhou T, Lai WH, Tse HF, Tam PK, Garcia-Barcelo MM, Ngan ES (2017) Correction of Hirschsprung-associated mutations in human induced pluripotent stem cells via clustered regularly interspaced short palindromic repeats/cas9, restores neural crest cell function. Gastroenterology 153(1):139-153.e8. doi: 10.1053/j.gastro.2017.03.014 PMID: 28342760
Objective: To identify mutations associated with short-segment Hirschsprung disease (S-HSCR), and use the clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 gene editing system to determine how mutations affect enteric neural crest cells (ENCC) function.
Summary: Mutations in vinculin gene (VCL) associated with S-HSCR were identified. 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. The study demonstrates how human iPSCs can be used to identify disease-associated mutations and determine how they affect cell functions and contribute to pathogenesis.
Usage: Immunofluorescence (1:500)
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