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)

从患有阿尔茨海默病并携带 ABCA7 缺失 (p.Arg578Alafs) 的非裔美国患者体内生成诱导性多能干细胞系 (UMi043-A)

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

Abstract

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.

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