{"doi":"10.1016/j.scr.2025.103759","title":"Generation of human induced pluripotent stem cell line from a familial Alzheimer’s disease patient carrying missense mutations in PSEN1 and MAPT genes","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.","journal":"Stem Cell Research","year":2025,"id":533980,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9365,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":738114,"name":"Sofia E. Sepulveda","orcid":null,"position":1,"is_corresponding":false},{"id":662780,"name":"Camila Gherardelli","orcid":null,"position":2,"is_corresponding":false},{"id":1416149,"name":"Fatemeh Elahian","orcid":"0000-0002-1489-4047","position":3,"is_corresponding":false},{"id":1416587,"name":"Amber Fontenot-Roberts","orcid":null,"position":4,"is_corresponding":false},{"id":565971,"name":"Aleksandar Bajić","orcid":"0000-0002-1255-9835","position":5,"is_corresponding":false},{"id":1092869,"name":"David H. Hunter","orcid":null,"position":6,"is_corresponding":false},{"id":267187,"name":"Claudio Soto","orcid":"0000-0002-3412-0524","position":7,"is_corresponding":false},{"id":276847,"name":"Paul E. Schulz","orcid":"0000-0003-0676-002X","position":8,"is_corresponding":false},{"id":662240,"name":"Abhisek Mukherjee","orcid":"0000-0002-1968-3249","position":9,"is_corresponding":false},{"id":1416148,"name":"Ashaq H. Najar","orcid":"0000-0003-1239-9429","position":0,"is_corresponding":true}],"reference_count":16,"raw_metadata":null,"created_at":"2026-07-19T02:51:43.451278Z","pmid":"40617177","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}