CANVAS syndrome is a rare neurodegenerative disorder belonging to the group of ataxias with impaired DNA repair. It is characterized by degeneration of the sensory ganglia, posterior columns of the spinal cord, and the cerebellum. CANVAS is caused by a biallelic expansion of AAGGG pentanucleotide repeats in the second intron of the RFC1 gene, which encodes a subunit of the RFC complex involved in DNA replication and repair. To study the pathogenesis mechanisms of CANVAS in a cell model, we generated iPSC line RCPCMi017-A (IPSCANVAS1E6) from fibroblasts of a patient with a biallelic AAGGG expansion in the RFC1 gene and a diagnosis of CANVAS. The iPSCs exhibited typical stem cell morphology and expression of pluripotency markers. The pluripotency of the iPSCs was confirmed by their ability to differentiate into cells derived from the three germ layers. The iPSC line had a normal karyotype (46,XX).
Sharikova et al. (Wed,) studied this question.