Generation of Human Induced Pluripotent Stem Cell Line From a Familial Alzheimer’s Disease Patient Carrying Missense Mutations in PSEN1 and MAPT Genes

Authors

Ashaq H Najar
Sofia E Sepulveda
Camila Gherardelli
Fatemeh Elahian
Amber Fontenot-Roberts
Aleksandar Bajic
David H Hunter
Claudio Soto
Paul E Schulz
Abhisek Mukherjee

Publication Date

9-1-2025

Journal

Stem Cell Research

DOI

10.1016/j.scr.2025.103759

PMID

40617177

Abstract

Alzheimer's disease (AD), pathologically characterized by misfolding and accumulation of amyloid beta (Aβ) and hyperphosphorylated tau, is the leading cause of neurodegenerative dementia, accounting for 60-80 % of cases. The familial form of AD is caused by mutations in amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) genes. Here, we report the generation of an iPSC line from a 39-year-old AD patient carrying a missense mutation in PSEN1 (F177S), leading to very early onset of AD. The patient also carries a rare variant Q49E in the microtubule-associated protein tau gene (MAPT) with an as yet unknown clinical significance.

Keywords

Humans, Presenilin-1, Alzheimer Disease, Induced Pluripotent Stem Cells, Mutation, Missense, tau Proteins, Adult, Cell Line, Male

Published Open-Access

yes

Recommended Citation

Najar, Ashaq H; Sepulveda, Sofia E; Gherardelli, Camila; et al., "Generation of Human Induced Pluripotent Stem Cell Line From a Familial Alzheimer’s Disease Patient Carrying Missense Mutations in PSEN1 and MAPT Genes" (2025). Faculty, Staff and Student Publications. 4991.
https://digitalcommons.library.tmc.edu/uthgsbs_docs/4991