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.

Autor:	Oksanen M; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland., Hyötyläinen I; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland., Voutilainen J; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland., Puttonen KA; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland., Hämäläinen RH; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland., Graff C; Karolinka Institutet, Department NVS, Division of Neurogeriatrics, Solna, Sweden; Theme Aging, Genetics Unit, Karolinska University Hospital-Solna, Sweden., Lehtonen Š; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland; Neuroscience Center, University of Helsinki, Finland., Koistinaho J; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland; Neuroscience Center, University of Helsinki, Finland. Electronic address: jari.koistinaho@uef.fi.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2018 Aug; Vol. 31, pp. 181-185. Date of Electronic Publication: 2018 Aug 01.
DOI:	10.1016/j.scr.2018.07.024
Abstrakt:	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. (Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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