GM01781

GM01781 LCL from B-Lymphocyte

Description:

CYSTATHIONINURIA
CYSTATHIONINE GAMMA-LYASE; CTH

Affected:

Yes

Sex:

Female

Age:

18 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

proband

Confirmation

Clinical summary/Case history

ISCN

46,XX

Species

Homo sapiens

Common Name

Human

Remarks

B6 responsive; 46,XX; 4% of cells show random chromosome loss; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 356 in exon 2 of the CTH gene (356C>T) resulting in the substitution of isoleucine for threonine at codon 67 [Thr67Ile (T67I)]; and the second allele has a C>G transversion at nucleotide 874 in exon 7 (874C>G) resulting in the substitution of glutamic acid for glutamine at codon 240 [Gln240Glu (Q240E)]

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

CTH

Chromosomal Location

1p31.1

Allelic Variant 1

607657.0003; CYSTATHIONINURIA

Identified Mutation

THR67ILE

Gene

CTH

Chromosomal Location

1p31.1

Allelic Variant 2

607657.0004; CYSTATHIONINURIA

Identified Mutation

GLN240GLU

Phenotypic Data

Remarks

Publications

Wang J, Hegele RA, Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). Hum Genet112(4):404-8 2003

PubMed ID: 12574942