GM08940

GM08940 LCL from B-Lymphocyte

Description:

MUCOPOLYSACCHARIDOSIS TYPE IIIC

Affected:

Yes

Sex:

Male

Age:

17 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Lysosomal Storage Diseases

Class

Disorders of Carbohydrate Metabolism

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

ITALIAN

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; consanguineous parents; developmentally delayed beginning in infancy; began regressing just before sampling age; severely mentally retarded; coarse facial features; broad hands; hirsute; low hair line; lumbar lordosis; hepatosplenomegaly; deficiency of acetyl CoA: alpha-glucosamide-N-acetyltransferase.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.

heparan-alpha-glucosaminide N-acetyltransferase

According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.3.1.78

Phenotypic Data

Remarks

External Links

dbSNP

dbSNP ID: 11165

NCBI Gene

Gene ID:8119

NCBI GTR

252930 MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

OMIM

252930 MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Omim Description

ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY

MPS IIIC

MUCOPOLYSACCHARIDOSIS TYPE IIIC

SANFILIPPO SYNDROME C

Culture Protocols

Split Ratio

1:3

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not Inactivated

Substrate

None specified

Subcultivation Method

dilution - add fresh medium

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD