Work

Generation of Spinocerebellar Ataxia 27B iPSC Lines and Isogenic Controls

Year: 2026

Type: article

Abstract: Spinocerebellar Ataxia 27B (SCA27B) is a late-onset neurodegenerative disorder caused by a heterozygous pathogenic GAA•TTC repeat expansion in intron 1 of FGF14. Despite being a common genetic cause of adult-onset cerebellar ataxia, the underlying molecular mechanisms remain unclear. Here, we performed simultaneous reprogramming and CRISPR-Cas9 genome editing to generate four induced pluripotent stem cell (iPSC) lines and their respective isogenic gene-corrected controls. All lines exhibited normal karyotypes, pluripotency, and trilineage differentiation capacity. These paired iPSC lines provide a valuable platform for investigating the pathomechanism(s) of SCA27B and can be used for screening of potential therapeutic treatments.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2026.104118