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
journal contribution
posted on 2024-11-15, 02:07 authored by Sonia Sanz Munoz, Rachelle BalezRachelle Balez, Mauricio E Castro Cabral Da Silva, Tracey BergTracey Berg, Martin Engel, Monique Bax, Phuong Dzung Do-HaPhuong Dzung Do-Ha, Claire StevensClaire Stevens, Mark Greenough, Ashley I BUSH, Lezanne OoiLezanne OoiThe 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.