Author

William C. Skarnes

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Open access Oct 2026

Characterization of structural variants in KOLF2.1J iPSCs and their potential impact on forebrain organoid differentiation.

The KOLF2.1J human induced pluripotent stem cell (iPSC) line was created as a reference for neurological disease modeling. Previous genotyping efforts identified several large structural variants (SVs), raising questions about their potential impact on neuronal differentiation. Here, we identified 37 additional SVs usi...

Lízia Branco, Zeynep Yentur, M. Yang et al. · Stem Cell Reports · 0 citations

Open access Jul 2026

Epilepsy-associated SCN2A-L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids.

These findings demonstrate that the Nav1.2-L1342P mutation drives a multifaceted disease phenotype, including network hyperexcitability and disruption of pathways related to neuronal and synaptic functions, which advances understanding of SCN2A-related developmental and epileptic encephalopathy (DEE).

M. I. Olivero-Acosta, Morgan Robinson, Zhefu Que et al. · Epilepsia · 0 citations