GM01566

GM01566 LCL from B-Lymphocyte

Description:

CYSTATHIONINURIA
CYSTATHIONINE GAMMA-LYASE; CTH

Affected:

Yes

Sex:

Female

Age:

16 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

HLA type A1,A28,B13,Bw35; 47,XX,+12/ 46,XX,-10,+12/45,XX,-10; 66%/30%/4%; 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 1 bp deletion at nucleotide 1220 in exon 11 (1220delC) resulting in the substitution of isoleucine for threonine at codon 355 [Thr355Ile (T355I)] causing a stop codon at 373

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed 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

607657.0002; CYSTATHIONINURIA

Identified Mutation

1 BP DEL, 1220C

Cytogenetics

Chromosome 12: ANEUPLOID Aneuploid Segment (+)12pter>12qter

Chromosome 12: ANEUPLOID Trisomic Segment 12pter>12qter

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