ID00035
LCL from B-Lymphocyte
Description:
BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK
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Repository
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NIAID - USIDnet
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| Subcollection |
Heritable Diseases |
| Class |
X Chromosome Markers |
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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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Clinical summary/Case history
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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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| BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK |
Studies show no BTK expression; 0% activity. |
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| Gene |
BTK |
| Chromosomal Location |
Xq22.1 |
| Allelic Variant 1 |
; AGAMMAGLOBULINEMIA |
| Identified Mutation |
361C>A |
| Remarks |
Clinically affected; donor subject has a C>A transition at nucleotide 361 of the BTK gene (361C>A); studies show no BTK expression |
| Gene Cards |
BTK |
| Gene Ontology |
GO:0004713 protein-tyrosine kinase activity |
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GO:0005524 ATP binding |
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GO:0005737 cytoplasm |
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GO:0006468 protein amino acid phosphorylation |
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GO:0007242 intracellular signaling cascade |
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GO:0007498 mesoderm development |
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GO:0008624 induction of apoptosis by extracellular signals |
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GO:0016740 transferase activity |
| NCBI Gene |
Gene ID:695 |
| NCBI GTR |
300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK |
| OMIM |
300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK |
| Omim Description |
AGAMMAGLOBULINEMIA TYROSINE KINASE; ATK |
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AGAMMAGLOBULINEMIA, X-LINKED, TYPE I, INCLUDED; AGMX1, INCLUDED |
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B-CELL PROGENITOR KINASE; BPKAGAMMAGLOBULINEMIA, X-LINKED, INCLUDED; XLA, INCLUDED |
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BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK |
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BRUTON TYPE AGAMMAGLOBULINEMIA, INCLUDED |
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HYPOGAMMAGLOBULINEMIA, X-LINKED, INCLUDED |
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IMMUNODEFICIENCY 1, INCLUDED; IMD1, INCLUDED |
| Split Ratio |
1:2 |
| 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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