Stem Cell Research · Published 2026-07-29 · DOI 10.1016/j.scr.2026.104069
Istaq Ahmad, Shahrumi Reza, Nidhi Singh, Sarika Yadav, Pallavi Singh, Deepak Kumar, Achal Kumar Srivastava, Mohammed Faruq
Spinocerebellar ataxia type 12 (SCA12) is a progressive late-onset neurodegenerative disorder caused by expansion of ≥ 43 trinucleotide CAG repeats in the upstream non-coding region of the PPP2R2B gene at locus 5q32 (SCA12; OMIM#604326). Clinically SCA12 patients predominately present hand tremor, gait ataxia, tremulous voice and other neurological and psychiatric features. Neuroimaging reveals degenerative changes in the cerebral cortex and cerebellum, however, the underlying disease mechanism at molecular level is still incompletely understood.Here we report generation of four induced pluripotent stem cells (iPSCs) of SCA12 patients. The established lines were positive for PPP2R2B-CAG expansion mutation and showed expression of undifferentiated hPSC state markers, three germ layer differentiation potential, normal genetic integrity and contamination-free culture.
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Ahmad, I., Reza, S., Singh, N., et al. (2026). Establishment of four induced pluripotent stem cell lines (IGIBi028-A, IGIBi029-A, IGIBi030-A, and IGIBi031-A) from peripheral blood derived cells of Spinocerebellar ataxia Type 12 patients. Stem Cell Research. https://doi.org/10.1016/j.scr.2026.104069