Frederiksen HR, Holst B, Mau-Holzmann UA, Freude K, Schmid B. Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene. Stem Cell Res. 2019 Mar;35:101403. Epub 2019 Feb 7 PubMed.

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Mutations

  1. PSEN1 E280A (Paisa)