GM16481

GM16481 LCL from B-Lymphocyte

Description:

CYSTINURIA; CSNU
SOLUTE CARRIER FAMILY 3, MEMBER 1; SLC3A1

Affected:

Yes

Sex:

Male

Age:

45 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Amino Acid Metabolism

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

brother

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; affected sister is GM16500; one allele carries a ATG-ACG transversion resulting in a substitution of threonine for methionine at codon 467 [Met467Thr (M467T)] in the SLC3A1 gene.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

SLC3A1

Chromosomal Location

2p16.3

Allelic Variant 1

104614.0001; CYSTINURIA

Identified Mutation

MET467THR; Calonge et al. [Nature Genet. 6: 420-425 (1994)] detected a met467-to-thr mutation in the SLC3A1 gene in 3 cystinuric sibs. The mutation nearly abolished the amino acid transport activity induced by the SLC3A1 gene in Xenopus oocytes. Bisceglia et al. [Hum. Genet. 98: 447-451 (1996)] noted that this was the most common allele detected in the Spanish and Italian population analyzed by them.

Phenotypic Data

Remarks

Clinically affected; affected sister is GM16500; one allele carries a ATG-ACG transversion resulting in a substitution of threonine for methionine at codon 467 [Met467Thr (M467T)] in the SLC3A1 gene.