GM04306

GM04306 Fibroblast

Description:

GALACTOSIALIDOSIS; GSL

Affected:

No

Sex:

Male

Age:

36 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Lysosomal Storage Diseases

Class

Disorders of Carbohydrate Metabolism

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Family Member

Relation to Proband

father

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Normal beta-galactosidase, neuraminidase & GM3 sialidase activity; normal sialic acid content; see GM06092A Lymphoid; clinically unaffected father of GM00806

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

Normal beta-galactosidase, neuraminidase & GM3 sialidase activity; normal sialic acid content; see GM06092A Lymphoid; clinically unaffected father of GM00806

Publications

Andria, Infantile neuraminidase and B-galactosidase deficiencies (galactosialidosis) with mild clinical courses. Perspect Inher Metab Dis4:379 (1981): 1981

PubMed ID: