ID00004

ID00004 LCL from B-Lymphocyte

Description:

WAS GENE; WAS
WISKOTT-ALDRICH SYNDROME; WAS

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

Overview

Repository

NIAID - USIDnet

Subcollection

Heritable Diseases

Class

Disorders of Uncertain Biochemical Etiology

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; classic type; the donor subject has a G>A transition at nucleotide 431 (431G>A) in exon 4 of the WAS gene, resulting in a missense mutation: the substitution of lysine for glutamic acid at codon 133 [Glu133Lys (E133K)]

Characterizations

WAS GENE; WAS

The mutation in the Wiscott-Aldrich Syndrome (WAS) gene was detected by sequencing. It is unknown whether or not the protein is expressed.

Gene

WAS

Chromosomal Location

Xp11.23-p11.22

Allelic Variant 1

E133K; WISKOTT-ALDRICH SYNDROME

Identified Mutation

GLU133LYS

Phenotypic Data

Remarks

External Links

dbSNP

dbSNP ID: 17751

Gene Cards

WAS

Gene Ontology

GO:0005083 small GTPase regulatory/interacting protein activity

GO:0006461 protein complex assembly

GO:0006952 defense response

GO:0007596 blood coagulation

GO:0008154 actin polymerization and/or depolymerization

GO:0008544 epidermis development

GO:0015629 actin cytoskeleton

NCBI Gene

Gene ID:7454

NCBI GTR

300392 WAS GENE; WAS

301000 WISKOTT-ALDRICH SYNDROME; WAS

OMIM

300392 WAS GENE; WAS

301000 WISKOTT-ALDRICH SYNDROME; WAS

Omim Description

WAS GENE; WAS

Culture Protocols

Split Ratio

1:2

Temperature

37 C

Percent CO2

Medium

Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not Inactivated

Substrate

None specified

Subcultivation Method

dilution - add fresh medium

Supplement

Pricing

Commercial:

$295.00USD

Academic &
Non-profit:

$205.00USD