ID00002
LCL from B-Lymphocyte
Description:
CD40 LIGAND; CD40LG
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1
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Repository
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NIAID - USIDnet
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TNFSF5 |
The mutation in the CD40 Ligand (CD40L) gene was detected by sequencing. Proteins were incapable of binding to the CD40 construct. |
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| Gene |
CD40LG |
| Chromosomal Location |
Xq26 |
| Allelic Variant 1 |
300386.0004; IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 |
| Identified Mutation |
LEU155PRO; Allen et al. (1993) identified a substitution of proline for leucine at position 155 of the CD40LG gene in a patient with hyper-IgM syndrome.
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| Remarks |
Clinically affected; patient #2 in Allen et al, Science 259 (5097):990-993, 1993; the donor subject has a T>C transition in the CD40LG gene, resulting in a missense mutation: the substitution of proline for leucine at codon 155 [Leu155Pro (L155P)] |
| Allen RC, Armitage RJ, Conley ME, Rosenblatt H, Jenkins NA, Copeland NG, Bedell MA, Edelhoff S, Disteche CM, Simoneaux DK, et al, CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science259(5097):990-3 1993 |
| PubMed ID: 7679801 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
- |
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