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

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 tableUnlabelled 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, [email protected] Steenpass, [email protected] 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 #105830)Gene/locusPrader-Willi/Angelman syndrome locus, chromosome 15q11q13Method of modificationNAName of transgene or resistanceNAInducible/constitutive systemNADate archived/stock date14.04.2017 (Essen)Cell line repository/bankNAEthical approvalEthikkommission der medizinischen Fakultät der Christian-Albrechts Universität zu Kiel, Approval number A145/11A145/11