Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1
Research output: Contribution to journal › Journal article › Research › peer-review
Skin fibroblasts were obtained from a 48-year-old presymptomatic woman carrying a A79V mutation in the presenilin 1 gene (PSEN1), causing Alzheimer's disease (AD). Induced pluripotent stem cell (iPSCs) were derived via transfection with episomal vectors carrying hOCT4, hSOX2, hKLF2, hL-MYC, hLIN28 and shTP53 genes. A79V-iPSCs were free of genomically integrated reprogramming genes, had the specific mutation but no additional genomic aberrancies, expressed the expected pluripotency markers and displayed in vitro differentiation potential to the three germ layers. The reported A79V-iPSCs line may be a useful resource for in vitro modeling of familial AD.
| Original language | English |
|---|---|
| Journal | Stem Cell Research |
| Volume | 16 |
| Issue number | 2 |
| Pages (from-to) | 229-332 |
| Number of pages | 4 |
| ISSN | 1873-5061 |
| DOIs | |
| Publication status | Published - Mar 2016 |
- Alzheimer Disease, Base Sequence, Cell Differentiation, Cells, Cultured, Cellular Reprogramming, Exons, Female, Fibroblasts, Humans, Induced Pluripotent Stem Cells, Karyotype, Microscopy, Fluorescence, Middle Aged, Polymorphism, Single Nucleotide, Presenilin-1, Real-Time Polymerase Chain Reaction, Transcription Factors, Journal Article, Research Support, Non-U.S. Gov't
Research areas
ID: 173167997