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

Neureiter, Anika; Brändl, Björn; Hiber, Michaela; Tandon, Rashmi; Müller, Franz-Josef; Steenpass, Laura

doi:10.1016/j.scr.2018.09.015

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学術論文

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

MPS-Authors

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Brändl, Björn
Dept. of Genome Regulation (Head: Alexander Meissner), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Müller, Franz-Josef
Cellular Phenotyping (Franz-Josef Müller), Dept. of Genome Regulation, (Head: Alexander Meissner), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Neureiter.pdf
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引用

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.

引用: https://hdl.handle.net/21.11116/0000-0003-8DE1-0

要旨

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.