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  Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect

Neureiter, A., Brändl, B., Hiber, M., Tandon, R., Müller, F.-J., & Steenpass, L. (2018). Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect. Stem Cell Research, 33, 20-24. doi:10.1016/j.scr.2018.09.015.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0003-8DE1-0 Version Permalink: http://hdl.handle.net/21.11116/0000-0003-8E2A-F
Genre: Journal Article

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Neureiter.pdf (Publisher version), 972KB
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© 2018 The Authors

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 Creators:
Neureiter, Anika , Author
Brändl, Björn1, Author              
Hiber, Michaela , Author
Tandon, Rashmi , Author
Müller, Franz-Josef2, Author              
Steenpass, Laura , Author
Affiliations:
1Dept. of Genome Regulation (Head: Alexander Meissner), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2379694              
2Cellular Phenotyping (Franz-Josef Müller), Dept. of Genome Regulation, (Head: Alexander Meissner), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_3014190              

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 Abstract: Angelman syndrome (AS) is a neurodevelopmental disorder with leading symptoms of happy demeanor, intellectual disability, ataxia and seizures. AS can be caused by genetic and epigenetic aberrations, resulting in the absence of functional UBE3A protein in the brain. UBE3A is an imprinted gene, which is, in neurons of the brain, expressed exclusively from maternal chromosome 15. The generated iPSC line was derived from skin fibroblasts of a patient with AS, who, due to an imprinting defect, lacked DNA methylation at the chromosome 15 imprinting center, which controls maternal-specific expression of UBE3A. Resource table.

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Language(s): eng - English
 Dates: 2018-09-182018-09-242018-12
 Publication Status: Published in print
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 Rev. Method: -
 Identifiers: DOI: 10.1016/j.scr.2018.09.015
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Title: Stem Cell Research
Source Genre: Journal
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Publ. Info: Amsterdam : Elsevier
Pages: - Volume / Issue: 33 Sequence Number: - Start / End Page: 20 - 24 Identifier: ISSN: 1873-5061
CoNE: https://pure.mpg.de/cone/journals/resource/1873-5061