GM21867

GM21867 LCL from B-Lymphocyte

Description:

WISKOTT-ALDRICH SYNDROME; WAS
WAS GENE; WAS

Affected:

Yes

Sex:

Male

Age:

No Data

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; mild; microthrombocytopenia with persistent treatable eczema and/or frequent infections; donor subject has a G>A transition at position 5 in intron 6 of the WAS gene (IVS6+5G>A) which activates a cryptic 5 prime splice site resulting in the incorporation of the first 38 nucleotides from intron 6 spliced onto exon 7

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

WAS

Chromosomal Location

Xp11.23-p11.22

Allelic Variant 1

300392.0016; WISKOTT-ALDRICH SYNDROME

Identified Mutation

IVS6+5G>A

Phenotypic Data

Remarks

Publications

Lemahieu V, Gastier JM, Francke U, Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes Human mutation14:54-66 1999

PubMed ID: 10447259