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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).
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.
Afiliación
  • Cukier HN; 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 o
  • Simon SA; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, United States.
  • Tang E; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, United States.
  • Golightly CG; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, United States.
  • Laverde-Paz MJ; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, United States.
  • Adams LD; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, United States.
  • Starks TD; Social Sciences and Health Policy, Wake Forest School of Medicine, Winston-Salem, NC 27157, United States.
  • Vance JM; 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 o
  • Cuccaro ML; John P. Hussman Institute for Human Genomics, 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.
  • Haines JL; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, United States.
  • Byrd GS; Social Sciences and Health Policy, Wake Forest School of Medicine, Winston-Salem, NC 27157, United States.
  • Pericak-Vance MA; 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 o
  • Dykxhoorn DM; John P. Hussman Institute for Human Genomics, 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. Electronic address: ddykxhoorn@med.mi
Stem Cell Res ; 76: 103364, 2024 Apr.
Article en 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.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Línea Celular / Células Madre Pluripotentes Inducidas / Enfermedad de Alzheimer Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2024 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Línea Celular / Células Madre Pluripotentes Inducidas / Enfermedad de Alzheimer Límite: Humans Idioma: En Revista: Stem Cell Res Año: 2024 Tipo del documento: Article