Gaucher disease is an autosomal recessive disorder caused by the deficiency of glucocerebrosidase, which is an enzyme required for the lysosomal degradation of glycolipids (see GSL pathway diagram). The clinical phenotype and variability of Gaucher disease is very broad but is often considered to have five clinical subtypes, ranging from mild to lethal. Gaucher disease is most common in the Ashkenazi Jewish population but does occur in all ethnic groups. The only gene known to cause Gaucher disease is GBA (OMIM # 606463) and more than 150 mutations have been identified in this gene (see mutations currently listed in the NIGMS catalog).

Our collection of Gaucher disease cell lines comprises twenty individuals, fifteen of whom are affected. Of the fifteen affected individuals, nine have Gaucher disease Type I, four have Gaucher disease Type II, and two have Gaucher disease Type III. Sixteen of the individuals have identified mutations in the GBA gene representing a total of nine different mutations. The collection encompasses cell lines from individuals of various ethnic backgrounds including Ashkenazi Jewish, Hispanic, Italian, and Black.