Generation of a human induced pluripotent stem cell line (LL008 1.4) from a familial Alzheimer's disease patient carrying a double KM670/671NL (Swedish) mutation in APP gene

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. Unique stem cell line identifier UEFi002-A Alternative name(s) of stem cell line LL008 1.4 Institution A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland Contact information of distributor Prof. Jari Koistinaho ( jari.koistinaho@uef.fi ; jari.koistinaho@helsinki.fi ) Type of cell line iPSC Origin Human Additional origin info Age: 58 Sex: Female Ethnicity: Scandinavian Cell Source Skin fibroblasts Clonality Clonal Method of reprogramming Sendai virus carrying OCT3/4, SOX2, KLF4 and c-MYC (CytoTune 1.0) Genetic Modification No Type of Modification N/A Associated disease Familial Alzheimer's disease Gene/locus APP (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 modification N/A Name of transgene or resistance N/A Inducible/constitutive system N/A Date archived/stock date March 2016 Cell line repository/bank N/A Ethical approval Ethical license number 2017/834–31/1 (The ethical review board of Karolinska Institutet/Karolinska University Hospital)