From: Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes
clone name | clinical character | GFAP genotype | Sex | Age at onset | Age at sampling |
---|---|---|---|---|---|
HC1 | healthy | wild | female | - | 36 |
HC2 | healthy | wild | female | - | 67 |
HC3 | healthy | wild | male | - | 74 |
Alex1 | Alexander disease type I | R239C (c. 729 C > T) | male | 2 | 6 |
Alex2 | Alexander disease type I | E63K (c.205 G > A) | female | 3 | 10 |
Alex3 | Alexander disease type II | R276L (c.827 G > T) | female | 33 | 45 |