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Article

Generation of two iPSC lines (UMi038-A & UMi039-A) from siblings bearing an Alzheimer's disease-associated variant in SORL1.

Stem cell research - 1 Jul 2022

DeRosa Brooke A, Simon Shaina A, Velez Christina A, Vance Jeffery M, Pericak-Vance Margaret A, Dykxhoorn Derek M

Abstract excerpt

Alzheimer's disease (AD) is the leading cause of dementia among older adults. SORL1, a top AD risk gene, encodes an endocytic receptor involved amyloid precursor protein (APP) trafficking and processing. Rare loss-of-function SORL1 variants are a strong genetic determinant of AD, and protein-truncating mutations have been found to be causal. We derived iPSCs from two siblings affected with early-onset AD who...

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Identifiers

PMID: 35671596
DOI: 10.1016/j.scr.2022.102823

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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