Biomaterial Database

[Tay-Sachs disease: a case report. Interest of ultrastructural studies of cultured skin fibroblasts (author's transl)]. 1980

F Charbonne, and P Rousseau, and G Malpuech, and A Geneix

Ultrastructural studies of cultured skin fibroblasts derived from an individual affected with Tay-Sachs disease (GM2 gangliosidosis variant B) diagnosed by clinical observation and hexosaminidase A deficiency, revealed several lamellar lysosomal inclusions. These inclusions are not seen in cultured fibroblasts and cultured amniotic fluid cells derived from individuals heterozygotic for Tay-Sachs disease. Normal cells were cultured and observed for comparison.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D002478	Cells, Cultured	Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.	Cultured Cells,Cell, Cultured,Cultured Cell
D005347	Fibroblasts	Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.	Fibroblast
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013661	Tay-Sachs Disease	An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.	G(M2) Gangliosidosis, Type I,Gangliosidosis G(M2), Type I,Gangliosidosis GM2, B Variant,Hexosaminidase A Deficiency Disease,Tay-Sachs Disease, B Variant,Amaurotic Familial Idiocy,B Variant GM2 Gangliosidosis,B Variant GM2-Gangliosidosis,Deficiency Disease Hexosaminidase A,Familial Amaurotic Idiocy,GM2 Gangliosidosis, B Variant,GM2 Gangliosidosis, Type 1,GM2 Gangliosidosis, Type I,GM2-Gangliosidosis, Type I,Gangliosidosis GM2 , Type 1,Gangliosidosis GM2, Type I,HexA Deficiency,Hexosaminidase A Deficiency,Hexosaminidase alpha-Subunit Deficiency (Variant B),Sphingolipidosis, Tay-Sachs,Amaurotic Idiocy, Familial,B Variant GM2-Gangliosidoses,Deficiency, Hexosaminidase A,Deficiency, Hexosaminidase alpha-Subunit (Variant B),GM2-Gangliosidosis, B Variant,Hexosaminidase alpha Subunit Deficiency (Variant B),Sphingolipidosis, Tay Sachs,Tay Sachs Disease,Tay Sachs Disease, B Variant,Tay-Sachs Sphingolipidosis,Type I GM2-Gangliosidosis