从一名携带ABCA7缺失（p.Arg578Alafs）的非裔美国阿尔茨海默病患者中生成诱导多能干细胞系（UMi043-A）。

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).

作者信息

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

机构信息

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, United States; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, United States; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, United States.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, United States.

出版信息

Stem Cell Res. 2024 Apr;76:103364. doi: 10.1016/j.scr.2024.103364. Epub 2024 Feb 25.

DOI:10.1016/j.scr.2024.103364

PMID:38422817

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 ancestry. 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.

摘要

ATP结合盒转运体A亚家族成员7（ABCA7）基因与非洲、亚洲和欧洲血统人群的阿尔茨海默病（AD）风险相关。已鉴定出许多导致风险的ABCA7突变，包括非洲血统个体特有的44个碱基对缺失（rs142076058），预计会导致移码突变（p.Arg578Alafs）（Cukier等人，2016年）。UMi043-A人诱导多能干细胞系源自一名患有AD的非裔美国人个体，该个体对此缺失为杂合子，是进一步研究ABCA7以及这种非洲特异性缺失如何影响疾病病理的资源。