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 Res
; 76: 103364, 2024 Apr.
Article
in En
| MEDLINE
| ID: mdl-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 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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cell Line
/
Induced Pluripotent Stem Cells
/
Alzheimer Disease
Limits:
Humans
Language:
En
Journal:
Stem Cell Res
Year:
2024
Type:
Article