An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines.

Abstract excerpt

Spastic Ataxias (SA) are a group of neurodegenerative disorders with combined pyramidal and cerebellar system affection, leading to an overlap phenotype between Hereditary Spastic Paraplegias (HSP) and Cerebellar Ataxias (CA). Here we describe the generation of iPSCs from three unrelated patients with an ultra-rare subtype of SA caused by compound heterozygous mutations in POLR3A, that encodes the largest subunit...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Aged
• Share to Cell Line
• Share to Induced Pluripotent Stem Cells