GM12010

GM12010 LCL from B-Lymphocyte

Description:

LESCH-NYHAN SYNDROME; LNS
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; HPRT

Affected:

Yes

Sex:

Male

Age:

9 MO (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Nucleotide and Nucleic 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

Ethnicity

ITALIAN

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Line RJK2163; 17% of control HPRT activity in erythrocyte hemolysate; HPRT1 gene shows a single base mutation, G>A, in exon 2 resulting in substitution of Lys for Arg in codon 44 {Arg44Lys (R44K)}

Characterizations

hypoxanthine phosphoribosyltransferase

According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.2.8; 17% activity.

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

HPRT1

Chromosomal Location

Xq26-q27.2

Allelic Variant 1

308000.0020; LESCH-NYHAN SYNDROME

Identified Mutation

ARG44LYS; Gibbs et al. [Genomics 7: 235 (1990)] described this mutation in cell line RJK2163 (GM12010) from a patient with LNS.

Phenotypic Data

Remarks

Line RJK2163; 17% of control HPRT activity in erythrocyte hemolysate; HPRT1 gene shows a single base mutation, G>A, in exon 2 resulting in substitution of Lys for Arg in codon 44 {Arg44Lys (R44K)}

Publications

Gibbs RA, Nguyen PN, Edwards A, Civitello AB, Caskey CT, Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics7:235-44 1990

PubMed ID: 2347587