ID00063

ID00063 LCL from B-Lymphocyte

Description:

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1
CD40 LIGAND; CD40LG

Affected:

Yes

Sex:

Male

Age:

9 YR (At Sampling)

Overview

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Repository

NIAID - USIDnet

Subcollection

Heritable Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Family Member

1

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; CD40 ligand expression almost completely absent; normal CD69 expression; affected brother is ID00064; subject has a single nucleotide deletion at position 580 (del580G)of the CD40 ligand gene (CD40LG) resulting in a frameshift and premature termination

Characterizations

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Gene

CD40LG

Chromosomal Location

Xq26

Allelic Variant 1

; IMMUNODEFICIENCY WITH HYPER-IgM; TYPE 1

Identified Mutation

del580G

Phenotypic Data

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Remarks

Clinically affected; CD40 ligand expression almost completely absent; normal CD69 expression; affected brother is ID00064; subject has a single nucleotide deletion at position 580 (del580G)of the CD40 ligand gene (CD40LG) resulting in a frameshift and premature termination

External Links

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Gene Cards

Gene Ontology

GO:0005164 tumor necrosis factor receptor binding

GO:0005174 CD40 receptor binding

GO:0005625 soluble fraction

GO:0005887 integral to plasma membrane

GO:0006916 anti-apoptosis

GO:0006954 inflammatory response

GO:0006955 immune response

GO:0007159 leukocyte cell adhesion

GO:0007165 signal transduction

GO:0030168 platelet activation

GO:0042100 B-cell proliferation

GO:0045190 isotype switching

NCBI Gene

NCBI GTR

300386 CD40 LIGAND; CD40LG

308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1

OMIM

300386 CD40 LIGAND; CD40LG

308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1

Omim Description

CD40 ANTIGEN LIGAND, INCLUDED; CD40LG, INCLUDED

CD40 LIGAND, INCLUDED

DYSGAMMAGLOBULINEMIA, TYPE I

GP39, INCLUDED

HYPER-IgM IMMUNODEFICIENCY; XHM

HYPER-IgM SYNDROME; HIGM1; IHIS

IMMUNODEFICIENCY 3; IMD3TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5, INCLUDED; TNFSF5,INCLUDED

IMMUNODEFICIENCY WITH INCREASED IgM

TNF-RELATED ACTIVATION PROTEIN, INCLUDED; TRAP, INCLUDED

Culture Protocols

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Split Ratio

1:3

Temperature

37 C

Percent CO2

5%

Percent O2

AMBIENT

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