Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene

Publication date: Available online 10 December 2018Source: Stem Cell ResearchAuthor(s): Jean Ann Maguire, Alyssa L. Gagne, Pedro Gonzalez-Alegre, Beverly L. Davidson, Vikram Shakkottai, Paul Gadue, Deborah L. FrenchAbstractSpinocerebellar Ataxia Type 2 (SCA2) is an autosomal dominant disease characterized by progressive degeneration of the cerebellum, brain stem, and spinal cord. SCA2 is caused by spontaneous misfolding and aggregate formation from abnormal CAG trinucleotide repeat expansion in the coding region of the ATXN2 gene (Antenora et al., 2017; Pulst et al., 1996). Here we describe the generation of two distinct iPSC lines from patients with SCA2.
Source: Stem Cell Research - Category: Stem Cells Source Type: research