iPSC neurodegenerative disease initiative isogenic CAG repeat iPSC line for Huntington's disease
Purpose of Research: in the KOLF2.1J background as an additional disease series within the iPSC Neurodegenerative Disease Initiative (iNDI) collection. Major Findings: KO, were capable of differentiating to striatal and cortical neurons, astrocytes and microglia using established protocols. General quality control stains and morphological analyses are described for each differentiation. A selected set of assays were carried out on differentiated cells; expanded repeat expressing astrocytes showed altered expression of astrocyte protein markers and morphological characteristics, and striatal neurons showed altered DARPP-32/CTIP2 colocalization. mRNAseq carried out for striatal neurons showed high similarities in gene expression changes between 79Q and KO lines compared to the unexpanded repeat. Conclusions: The KOLF2.1J isogenic CAG repeat series serves as a community resource to study HD mechanisms with the potential for direct comparison across other neurodegenerative diseases through the iNDI collection.
Authors
- Gloria Cao
- Michael Emmerson Ward (ORCID: https://orcid.org/0000-0002-5296-8051)
- Jennifer T. Stocksdale (ORCID: https://orcid.org/0000-0002-4304-6266)
- Leslie Michels Thompson (ORCID: https://orcid.org/0000-0003-4573-9514)
- Amber Keith
- Ricardo Miramontes (ORCID: https://orcid.org/0000-0002-9231-2479)
- Nicolette R. McClure (ORCID: https://orcid.org/0000-0002-3251-1441)
- Keona Q. Wang (ORCID: https://orcid.org/0000-0002-7715-2489)
- Mara S. Burns
- Mark Cookson (ORCID: https://orcid.org/0000-0002-1058-3831)
- Margaret L. Sutherland (ORCID: https://orcid.org/0000-0002-8262-4110)
- William C. Skarnes (ORCID: https://orcid.org/0000-0002-8334-3329)
- Lisa Salazar (ORCID: https://orcid.org/0009-0008-5532-2740)
- Leanne N. Ho
Institutions
- University of California, Irvine (US)
- National Institute on Aging (US)
- The Jackson Laboratory for Genomic Medicine (US)
Publication Details
- Journal
- Journal of Huntington s Disease
- Published
- 2026-10-16
- DOI
- https://doi.org/10.1177/18796397261497434
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- California Institute of Regenerative Medicine
- Achievement Rewards for College Scientists Foundation
- Chan Zuckerberg Initiative
- Rose Hills Foundation
- National Institutes of Health
- National Institute on Aging
- National Cancer Institute
- National Institute of Neurological Disorders and Stroke