ID00050
LCL from B-Lymphocyte
Description:
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED
SH2 DOMAIN PROTEIN 1A; SH2D1A
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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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| Gene |
SH2D1A |
| Chromosomal Location |
Xq25-q26 |
| Allelic Variant 1 |
300490.0001; LYMPHOPROLIFERATIVE SYNDROME, X-LINKED |
| Identified Mutation |
ARG55TER; In a patient with X-linked lymphoproliferative disease (308240), Coffey et al. (Nat Genet 20:129-135, 1998) identified a 462C-T transition in the SH2D1A gene, resulting in an arg55-to-ter (R55X) substitution in the middle of the SH2 domain. |
| Remarks |
Clinically affected; lymphoma of the gut at age 3; fevers; signs of liver failure; donor subject has a C>T transition at nucleotide 462 of the SH2D1A gene (462C>T) resulting in an arg55-to-ter substitution in the middle of the SH2 domain [Arg55Ter (R55X)] |
| Parolini S, Bottino C, Falco M, Augugliaro R, Giliani S, Franceschini R, Ochs HD, Wolf H, Bonnefoy JY, Biassoni R, Moretta L, Notarangelo LD, Moretta A, X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. J Exp Med192(3):337-46 2000 |
| PubMed ID: 10934222 |
| Gene Cards |
SH2D1A |
| Gene Ontology |
GO:0005070 SH3/SH2 adaptor protein activity |
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GO:0005737 cytoplasm |
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GO:0006968 cellular defense response |
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GO:0007242 intracellular signaling cascade |
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GO:0007267 cell-cell signaling |
| NCBI Gene |
Gene ID:4068 |
| NCBI GTR |
300490 SH2 DOMAIN PROTEIN 1A; SH2D1A |
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308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1 |
| OMIM |
300490 SH2 DOMAIN PROTEIN 1A; SH2D1A |
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308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1 |
| Omim Description |
DUNCAN DISEASE |
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EBV SUSCEPTIBILITY; EBVS |
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EPSTEIN-BARR INFECTION, FAMILIAL FATAL |
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IMMUNODEFICIENCY 5; IMD5 |
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IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE |
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INFECTIOUS MONONUCLEOSIS, SUSCEPTIBILITY TO |
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LYMPHOPROLIFERATIVE DISEASE, X-LINKED; XLPD |
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LYMPHOPROLIFERATIVE SYNDROME |
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LYP |
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PURTILO SYNDROMESH2 DOMAIN PROTEIN 1A, INCLUDED; SH2D1A, INCLUDED |
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SIGNALING LYMPHOCYTE ACTIVATION MOLECULE-ASSOCIATED PROTEIN, INCLUDED |
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SLAM-ASSOCIATED PROTEIN, INCLUDED; SAP, INCLUDED |
| Split Ratio |
1:3 |
| 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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