Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi008-A) from a patient with Spinocerebellar Ataxia Type 3.

Abnormal trinucleotide CAG repeat expansions in exon 10 of the ataxin-3 (ATXN3) gene has been identified as the cause of Spinocerebellar Ataxia Type 3 (SCA3). We generated and characterized a human induced pluripotent stem cell (iPSC) line from skin fibroblasts of a patient with genetically confirmed SCA3. The pluripotency of these iPSCs was verified by the expression of several undifferentiated hPSCs markers at both RNA and protein levels, as well as their capability to differentiate into all three germ layers.