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


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 carry a rare protein-truncating deletion in SORL1 (c.4293delC) (Kunkle et al., 2017). The iPSC lines were characterized for pluripotency, differentiation potential, and genomic stability. These lines are a valuable resource for studying pathogenic mechanisms underlying AD. Copyright © 2022. Published by Elsevier B.V.

Authors DeRosa BA, Simon SA, Velez CA, Vance JM, Pericak-Vance MA, Dykxhoorn DM
Journal Stem cell research
Publication Date 2022 Jul;62:102823
PubMed 35671596
DOI 10.1016/j.scr.2022.102823

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