Fabry disease
Description
OMIM mapping confirmed by DO. [SN].; A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.
Cell Lines
- AOUMEYi005-A
- INSRMe004-A
- SCVIi164-A
- SCVIi165-A
- CMCi006-A
- CMCi006-A-1
- CMCi006-A-1
- CMCi007-A
- CMCi010-A
- CTGUi001-A
- INSAi002-A
- MHHi040-A
- MHHi041-A
- MHHi041-B
- MHHi042-A
- MHHi042-B
- MHHi043-A
- MHHi043-B
- SMBCi022-A
- UKJi003-A
- UKWNLi006-A
- UKWNLi006-B
- UKWNLi007-A
- UKWNLi007-B
- UKWNLi009-A
- UKWNLi009-A-1
- UKWNLi009-A-1
- ZJULLi010-A