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A human iPS cell model of Angelman syndrome

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Abstract:

Angelman syndrome (AS) is a neurogenetic disorder that leads to severe mental retardation, lack of speech, seizures, and ataxia. AS is caused by loss of function of the maternally inherited allele of UBE3A1. The UBE3A gene encodes an E3 ubiquitin ligase and is subject to tissue-specific genomic imprinting. In mouse neurons, Ube3a is expressed exclusively from the maternally inherited chromosome. All other murine cell types, including neural progenitors and glia, express Ube3a from both parental alleles2. The timing and tissue-specificity of UBE3A imprinting has not been studied during human development due to the lack of available and appropriate post-mortem samples and the lack of a neuronal tissue culture model of human AS.

We have created a human induced pluripotent stem (iPS) cell model of AS for the purpose of understanding the timing and tissue-specificity of UBE3A imprinted expression during human neuronal development. This model will enable us to identify the neuronal defects that lead to the clinical manifestations of AS and provide a cell type in which to test potential therapies.
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Association:
Name: Connecticut's Stem Cell Research International Symposium
URL:
http://stemconn.org


Citation:
URL: http://citation.allacademic.com/meta/p319093_index.html
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MLA Citation:

Chamberlain, Stormy., Xin, Xiaonan., Autuoro, Joseph., Lichtler, Alex. and Lalande, Marc. "A human iPS cell model of Angelman syndrome" Paper presented at the annual meeting of the Connecticut's Stem Cell Research International Symposium, Omni Hotel, New Haven, CT, Mar 23, 2009 <Not Available>. 2014-11-29 <http://citation.allacademic.com/meta/p319093_index.html>

APA Citation:

Chamberlain, S. J., Xin, X. , Autuoro, J. , Lichtler, A. and Lalande, M. , 2009-03-23 "A human iPS cell model of Angelman syndrome" Paper presented at the annual meeting of the Connecticut's Stem Cell Research International Symposium, Omni Hotel, New Haven, CT <Not Available>. 2014-11-29 from http://citation.allacademic.com/meta/p319093_index.html

Publication Type: Poster
Review Method: Peer Reviewed
Abstract: Angelman syndrome (AS) is a neurogenetic disorder that leads to severe mental retardation, lack of speech, seizures, and ataxia. AS is caused by loss of function of the maternally inherited allele of UBE3A1. The UBE3A gene encodes an E3 ubiquitin ligase and is subject to tissue-specific genomic imprinting. In mouse neurons, Ube3a is expressed exclusively from the maternally inherited chromosome. All other murine cell types, including neural progenitors and glia, express Ube3a from both parental alleles2. The timing and tissue-specificity of UBE3A imprinting has not been studied during human development due to the lack of available and appropriate post-mortem samples and the lack of a neuronal tissue culture model of human AS.

We have created a human induced pluripotent stem (iPS) cell model of AS for the purpose of understanding the timing and tissue-specificity of UBE3A imprinted expression during human neuronal development. This model will enable us to identify the neuronal defects that lead to the clinical manifestations of AS and provide a cell type in which to test potential therapies.


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