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

Publication date: Available online 24 September 2018Source: Stem Cell ResearchAuthor(s): Anika Neureiter, Björn Brändl, Michaela Hiber, Rashmi Tandon, Franz-Josef Müller, Laura SteenpassAbstractAngelman 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 tableUnique stem cell line identifierZIPi015-KAlternative name(s) of stem cell lineAS_ID, ZIP15InstitutionZentrum für integrative Psychiatrie, University Hospital Kiel, Kiel, GermanyContact information of distributorFranz-Josef Müller, Laura Steenpass, Type of cell lineiPSCOriginhumanAdditional origin infoAge: 12Sex: femaleEthnicity if known: caucasianCell Sourceskin fibroblastsClonalityclonalMethod of reprogrammingepisomal/transgene-freeGenetic Modificationepigenetic aberration – imprinting defectType of Modificationlack of DNA methylation establishment or maintenance in the germ line of the patient's motherAssociated diseaseAngelman syndrome (OMIM #)Gene/locusPrader-Wil...

Source: Stem Cell Research - October 4, 2018 Category: Stem Cells Source Type: research