From: Assessment of cellular cobalamin metabolism in Gaucher disease
Sample | Gender | GD type | Genotype | Remarks |
---|---|---|---|---|
GM00852 | Male | I | N370S/84GG | Hepatosplenomegaly; Slowed horizontal saccades. |
GM00877 | Male | II | L444P/RecNciI | Hepatosplenomegaly; Strabismus; Trismus. |
GM20272 | Male | III | L444P/L444P | Hepatosplenomegaly; Slowed horizontal saccades. |
GM00878 | Female | Carrier of GD | Heterozygous for RecNciI | Clinically unaffected mother of GM00877. |
NHDF | Male | Normal human | No GBA1 mutation | Healthy dermal fibroblast |
HFF | Male | Normal human | No GBA1 mutation | Healthy dermal fibroblast |
Control-W | Female | Normal human | No GBA1 mutation | Healthy dermal fibroblast |