GM13989

GM13989 LCL from B-Lymphocyte

Description:

ATAXIA-TELANGIECTASIA; AT

Affected:

Yes

Sex:

Male

Age:

8 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Chromosome Abnormalities

Class

Repair Defective and Chromosomal Instability Syndromes

Class

Syndromes with Increased Chromosome Breakage

Alternate IDs

GM17340 [ATAXIA-TELANGIECTASIA; AT]

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

PALESTINIAN

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Palestinian; diagnosed at age 6 months; began using a wheelchair at age 8; eye telangiectasias since age 4; recurrent sinopulmonary infections; a first cousin is also affected

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

Phenotypic Data

Remarks

Palestinian; diagnosed at age 6 months; began using a wheelchair at age 8; eye telangiectasias since age 4; recurrent sinopulmonary infections; a first cousin is also affected