Heterozygous missense variant in GLI2 impairs human endocrine pancreas development
Laura M. Mueller,
Abigail Isaacson,
Heather Wilson
et al.
Abstract:Missense variants are the most common type of coding genetic variants. Their functional assessment is fundamental for defining any implication in human diseases and may also uncover genes that are essential for human organ development. Here, we apply CRISPR-Cas9 gene editing on human iPSCs to study a heterozygous missense variant in GLI2 identified in two siblings with early-onset and insulin-dependent diabetes of unknown cause. GLI2 is a primary mediator of the Hedgehog pathway, which regulates pancreatic β-c… Show more
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