Author

William C. Skarnes

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Open access Oct 2026

iPSC neurodegenerative disease initiative isogenic CAG repeat iPSC line for Huntington's disease.

Purpose of ResearchThe generation of iPSC lines expressing 21, 56 and 79 glutamine repeats within the HTT protein and homozygous KO of HTT in the KOLF2.1J background as an additional disease series within the iPSC Neurodegenerative Disease Initiative (iNDI) collection.Major FindingsAll iPSCs, even those expressing long...

Lisa Salazar, Mara S. Burns, Jennifer T. Stocksdale et al. · Journal of Huntington's Dise... · 0 citations

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 line was created as a reference for neurological disease modeling and 37 additional SVs were identified using long-read sequencing and optical genome mapping, finding one of the known SVs contained a previously undetected overlap with RYBP, a neurodevelopmental gene.

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