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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.
Stem cell research, April 2024, 2024-Apr, 2024-04-00, 20240401, 2024-04-01, Letnik: 76Journal Article
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.
