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Table 1 Genotype and phenotype of healthy and Gaucher disease fibroblasts utilized in this study

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