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Generation of an induced pluripotent stem cell line (UMi043-A) from an African American patient with Alzheimer's disease carrying an ABCA7 deletion (p.Arg578Alafs).

Stem cell research - 1 Apr 2024

Cukier Holly N, Simon Shaina A, Tang Eugene, Golightly Charles G, Laverde-Paz Mayra Juliana, Adams Larry Deon, Starks Takiyah D, Vance Jeffery M, Cuccaro Michael L, Haines Jonathan L, Byrd Goldie S, Pericak-Vance Margaret A, Dykxhoorn Derek M

Abstract excerpt

The ATP-binding cassette, subfamily A (ABC1), member 7 (ABCA7) gene is associated with Alzheimer's disease (AD) risk in populations of African, Asian, and European ancestry1-5. Numerous ABCA7 mutations contributing to risk have been identified, including a 44 base pair deletion (rs142076058) specific to individuals of African ancestry and predicted to cause a frameshift mutation (p.Arg578Alafs) (Cukier et al.,...

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Identifiers

PMID: 38422817
DOI: 10.1016/j.scr.2024.103364

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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