Product Overview

The cell line was derived from a single male doner of African American descent diagnosed with Gaucher disease type 1. The donor was one year of age.

Gaucher Type 1 is a genetic disorder caused by a defective enzyme called glucocerebrosidase (GCase), which breaks down a glucocerebroside, a sphingolipid stored in the lysosome. The build-up of glucocerebroside in the spleen, liver, kidneys, lungs, brain, and bone marrow causes severe neurological complications. Gaucher’s disease is considered the most common of the lysosomal storage diseases.

Vial contains approximately 500,000 cells. Shipped with dry ice.