دورية أكاديمية
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).
| العنوان: | 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). |
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| المؤلفون: | 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 of Miami Miller School of Medicine, Miami, FL 33136, United States., 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 of Miami Miller School of Medicine, Miami, FL 33136, United States., 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 of Miami Miller School of Medicine, Miami, FL 33136, United States., 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.miami.edu. |
| المصدر: | Stem cell research [Stem Cell Res] 2024 Apr; Vol. 76, pp. 103364. Date of Electronic Publication: 2024 Feb 25. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Kidlington, Oxford : Elsevier |
| مواضيع طبية MeSH: | Alzheimer Disease*/genetics , Alzheimer Disease*/metabolism , Induced Pluripotent Stem Cells*/cytology , Cell Line*, Humans ; ATP-Binding Cassette Transporters/genetics ; Black or African American/genetics ; Mutation |
| مستخلص: | 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 1-5 . 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. Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Holly N. Cukier reports financial support was provided by Alzheimer’s Association. Holly N. Cukier reports financial support was provided by BrightFocus Foundation. Holly N. Cukier reports financial support was provided by Florida Department of Health. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.) |
| المشرفين على المادة: | 0 (ABCA7 protein, human) 0 (ATP-Binding Cassette Transporters) |
| تواريخ الأحداث: | Date Created: 20240229 Date Completed: 20240325 Latest Revision: 20240325 |
| رمز التحديث: | 20240326 |
| DOI: | 10.1016/j.scr.2024.103364 |
| PMID: | 38422817 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1876-7753 |
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| DOI: | 10.1016/j.scr.2024.103364 |