Modeling Ataxia-Telangiectasia with Induced Pluripotent Stem Cell-Derived Purkinje Cells
Technical Report,01 Apr 2019,31 Mar 2020
The Rockefeller University New York United States
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The purpose and scope of this research is to generate a model system to study human ataxia-telangiectasia patient Purkinje cells and define molecular differences between induced pluripotent stem cell iPSC-derived Purkinje cells PCs from patients, from unaffected siblings, and from mouse PCs. Major findings include completion of gene expression comparison between control human stem cell-derived PCs and mouse PCs. These findings, which note similarities, differences, and novel gene expression patterns between mouse and human PCs, have been accepted for publication in the Proceedings of the National Academy of Sciences. We have further generated iPSC lines from three unaffected siblings and from two ataxia-telangiectasia patients. Initial experiments confirm differentiation capacity of control and patient lines to PCs.
- Anatomy and Physiology
- Genetic Engineering and Molecular Biology