ArticlemicroPublication biology2026
KMT2C Knockdown impairs neuronal differentiation in human induced pluripotent stem cell-derived neural stem cells.
Article in microPublication biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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10 authors.
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Abstract
KMT2C mutations are strongly associated with autism spectrum disorder (ASD). Whereas multiplexed CRISPR screens show complete KMT2C knockout impairs neuronal differentiation, mixed-genotype pools cannot exclude non-autonomous paracrine effects. Furthermore, the functional effect of partial loss of function remains unclear. Here, we targeted KMT2C via shRNA knockdown in single-genotype cultures of human induced pluripotent stem cell-derived neural stem cells. Reduced KMT2C expression decreased the neuronal markers MAP2, HuC/D, and DCX. Our results demonstrate that partial, strictly cell-autonomous KMT2C insufficiency impairs neuronal stem cell differentiation into neurons, modeling the haploinsufficiency observed in patients to reveal a neurodevelopmental pathogenesis for ASD.
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