Generation and characterization of human induced pluripotent stem cell lines from a familial Alzheimer's disease PSEN1 A246E patient and a non-demented family member bearing wild-type PSEN1


The induced pluripotent stem cell (iPSC) lines UOWi002-A and UOWi003-A were reprogrammed from dermal fibroblasts via mRNA transfection. Dermal fibroblasts from a 56 year old female caucasian familial Alzheimer's disease patient carrying A246E mutation in the PSEN1 gene (familial AD3, autopsy confirmed Alzheimer's disease) and a 75 year old female non-demented control from the same family bearing the wild-type PSEN1 A246 genotype were obtained from the Coriell Institute (AG06848 and AG06846, respectively). The generated iPSCs were characterized and pluripotency was confirmed. The PSEN1 genotype was maintained in both iPSC lines. Resource table. Copyright © 2018 University of Wollongong. Published by Elsevier B.V. All rights reserved.

Authors Muñoz SS, Balez R, Castro Cabral-da-Silva ME, Berg T, Engel M, Bax M, Do-Ha D, Stevens CH, Greenough M, Bush A, Ooi L
Journal Stem cell research
Publication Date 2018 Aug;31:227-230
PubMed 30138848
DOI 10.1016/j.scr.2018.08.006

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