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University of Toronto

1. Loo, Caitlin Melyssa. Characterizing Vascular and Neuronal Defects in Williams-Beuren Syndrome and 7q11.23 Duplication Syndrome Using Induced Pluripotent Stem Cells.

Degree: 2017, University of Toronto

Williams-Beuren syndrome (WBS) and 7q11.23 duplication syndrome (Dup7) are caused by the deletion and duplication, respectively, of 26-28 genes on chromosome 7 in humans, affecting the cardiovascular and nervous systems. To model WBS and Dup7, we generated induced pluripotent stem cells (iPSCs) from multiple WBS, Dup7, and healthy control individuals. In iPSC-derived smooth muscle cells (SMCs), I found an increase in proliferation and reduction in differentiation among WBS SMCs, while also finding elevated proportions of SMC marker in Dup7 precursors, indicating premature differentiation. Assessing neuronal morphology in iPSC-derived neurons, when co-cultured and compared with similarly derived control neurons, axon and dendrite lengths were increased in Dup7 neurons and soma size was increased in both WBS and Dup7 neurons. Further characterization of such phenotypes will provide insight into the pathology underlying the cardiovascular and neurobehavioural symptoms of WBS and Dup7 and inform how they can be addressed at a clinical level.

M.Sc.

Advisors/Committee Members: Ellis, James, Molecular and Medical Genetics.

Subjects/Keywords: 7q11.23 duplication syndrome; disease modelling; induced pluripotent stem cells; neuron; smooth muscle; Williams-Beuren syndrome; 0379

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Loo, C. M. (2017). Characterizing Vascular and Neuronal Defects in Williams-Beuren Syndrome and 7q11.23 Duplication Syndrome Using Induced Pluripotent Stem Cells. (Masters Thesis). University of Toronto. Retrieved from http://hdl.handle.net/1807/79310

Chicago Manual of Style (16th Edition):

Loo, Caitlin Melyssa. “Characterizing Vascular and Neuronal Defects in Williams-Beuren Syndrome and 7q11.23 Duplication Syndrome Using Induced Pluripotent Stem Cells.” 2017. Masters Thesis, University of Toronto. Accessed November 22, 2017. http://hdl.handle.net/1807/79310.

MLA Handbook (7th Edition):

Loo, Caitlin Melyssa. “Characterizing Vascular and Neuronal Defects in Williams-Beuren Syndrome and 7q11.23 Duplication Syndrome Using Induced Pluripotent Stem Cells.” 2017. Web. 22 Nov 2017.

Vancouver:

Loo CM. Characterizing Vascular and Neuronal Defects in Williams-Beuren Syndrome and 7q11.23 Duplication Syndrome Using Induced Pluripotent Stem Cells. [Internet] [Masters thesis]. University of Toronto; 2017. [cited 2017 Nov 22]. Available from: http://hdl.handle.net/1807/79310.

Council of Science Editors:

Loo CM. Characterizing Vascular and Neuronal Defects in Williams-Beuren Syndrome and 7q11.23 Duplication Syndrome Using Induced Pluripotent Stem Cells. [Masters Thesis]. University of Toronto; 2017. Available from: http://hdl.handle.net/1807/79310

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