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

Authors

Sonia Sanz Munoz, University of WollongongFollow
Rachelle Balez, University of WollongongFollow
Mauricio E Castro Cabral Da Silva, University of WollongongFollow
Tracey Berg, University of WollongongFollow
Martin Engel, University of WollongongFollow
Monique Bax, University of WollongongFollow
Phuong Dzung Do-Ha, University of WollongongFollow
Claire H. Stevens, University of WollongongFollow
Mark Greenough, University of Melbourne
Ashley I. BUSH, University of Melbourne
Lezanne Ooi, University of WollongongFollow

RIS ID

129755

Publication Details

Sanz Munoz, S., Balez, R., E Castro Cabral Da Silva, M., Berg, T., Engel, M., Bax, M., Do-Ha, P., Stevens, C. H., Greenough, M., BUSH, A. & Ooi, L. (2018). 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. Stem Cell Research, 31 227-230.

Abstract

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.