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)
Summary
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., 2016). The UMi043-A human induced pluripotent stem cell line was derived from an African American individual with AD who is heterozygous for this deletion and is a resource to further investigate ABCA7 and how this African-specific deletion may influence disease pathology. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Cukier HN, Simon SA, Tang E, Golightly CG, Laverde-Paz MJ, Adams LD, Starks TD, Vance JM, Cuccaro ML, Haines JL, Byrd GS, Pericak-Vance MA, Dykxhoorn DM |
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| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103364 |
| PubMed | 38422817 |
| DOI | 10.1016/j.scr.2024.103364 |