GM12012

GM12012 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Male

Age:

4 YR (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

Black/African American

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Line RJK2397; deficient HPRT activity in RBC; HPRT1 gene shows a single base mutation: G>A, in exon 2 resulting in substitution of Glu for Gly in codon 39 [Gly39Glu (G39E)]

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.

hypoxanthine phosphoribosyltransferase

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

Gene

HPRT1

Chromosomal Location

Xq26-q27.2

Allelic Variant 1

G39E; LESCH-NYHAN SYNDROME

Identified Mutation

GLY39GLU

Phenotypic Data

Remarks

Line RJK2397; deficient HPRT activity in RBC; HPRT1 gene shows a single base mutation: G>A, in exon 2 resulting in substitution of Glu for Gly in codon 39 [Gly39Glu (G39E)]

Publications

Kouprina N, Pavlicek A, Noskov VN, Solomon G, Otstot J, Isaacs W, Carpten JD, Trent JM, Schleutker J, Barrett JC, Jurka J, Larionov V, Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27 Genome research15:1477-86 2005

PubMed ID: 16251457