Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1

Research output: Contribution to journalJournal articleResearchpeer-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 languageEnglish
JournalStem Cell Research
Issue number2
Pages (from-to)229-332
Number of pages4
Publication statusPublished - Mar 2016

    Research areas

  • 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

ID: 173167997