Oksanen M, Petersen AJ, Naumenko N, Puttonen K, Lehtonen Š, Gubert Olivé M, Shakirzyanova A, Leskelä S, Sarajärvi T, Viitanen M, Rinne JO, Hiltunen M, Haapasalo A, Giniatullin R, Tavi P, Zhang SC, Kanninen KM, Hämäläinen RH, Koistinaho J. PSEN1 Mutant iPSC-Derived Model Reveals Severe Astrocyte Pathology in Alzheimer's Disease. Stem Cell Reports. 2017 Dec 12;9(6):1885-1897. Epub 2017 Nov 16 PubMed.

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Mutations

  1. PSEN1 S290_S319delinsC (ΔE9)
  2. PSEN1 S290_S319delinsC (ΔE9Finn)
  3. PSEN1 c.869-22_869-23ins18 (ΔE9)
  4. PSEN1 S290_S319delinsC G>A (ΔE9)
  5. PSEN1 S290_S319delinsC G>T (ΔE9)
  6. PSEN1 S290_S319delinsC A>G (ΔE9)