Abstract
A double mutation (KM670/671NL) in amyloid precursor protein gene (APP) is causative for familial Alzheimer's disease and has been shown to increase the total Aβ burden. Here we report the generation and characterization of an iPSC line from a fAD patient carrying APP KM670/671NL. The generated iPSCs retained the mutation, expressed pluripotency markers, showed a normal karyotype and differentiated into all three germ layers. This iPSC line can be used, for example, in disease modeling and mechanistic studies.Resource table.Unlabelled TableUnique stem cell line identifierUEFi002-AAlternative name(s) of stem cell lineLL008 1.4InstitutionA.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, FinlandContact information of distributorProf. Jari Koistinaho(jari.koistinaho@uef.fi; jari.koistinaho@helsinki.fi)Type of cell lineiPSCOriginHumanAdditional origin infoAge: 58Sex: FemaleEthnicity: ScandinavianCell SourceSkin fibroblastsClonalityClonalMethod of reprogrammingSendai virus carrying OCT3/4, SOX2, KLF4 and c-MYC(CytoTune 1.0)Genetic ModificationNoType of ModificationN/AAssociated diseaseFamilial Alzheimer's diseaseGene/locusAPP (MIM # 104760) located on the long arm of chromosome 21 at position 21q21.3; 27,269,939 G > T, 27269938 A > C (rs63751263, rs63750445)Method of modificationN/AName of transgene or resistanceN/AInducible/constitutive systemN/ADate archived/stock dateMarch 2016Cell line repository/bankN/AEthical approvalEthical license number 2017/834–31/1 (The ethical review board of Karolinska Institutet/Karolinska University Hospital)
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