GM17547
LCL from B-Lymphocyte
Description:
BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK
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Repository
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NIGMS Human Genetic Cell Repository
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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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Race
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White
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Family Member
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1
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
BTK |
| Chromosomal Location |
Xq22.1 |
| Allelic Variant 1 |
300300.0035; AGAMMAGLOBULINEMIA |
| Identified Mutation |
CYS506ARG; In a patient with X-linked agammaglobulinemia, Hagemann et al. (1994) identified a T-to-C transition at position 1648 in exon 15, resulting in a substitution of arginine for cysteine-506 in the middle of the kinase domain. Whether this residue is directly involved in catalytic activity or substrate recognition is not clear.
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| Remarks |
Clinically affected; at age 4 patient had recurrent pyogenic infections; IgG<50mg/dl; IgM<30mg/dl; IgA<20mg/dl; B lymphocytes express IgD and IgM; the cells synthesize small amounts of intracellular IgD, but there is no evidence of secretion; maternal uncle also has agammaglobulinemia; mother is GM17566; donor subject has T-to-C transition at nucleotide 1648 in exon 15 of the BTK gene (1648T>C) resulting in a substitution of arginine for cysteine at codon 506 in the middle of the kinase domain [Cys506Arg (C506R)] |
| Tao L, Boyd M, Gonye G, Malone B, Schwaber J, BTK mutations in patients with X-linked agammaglobulinemia: lack of correlation between presence of peripheral B lymphocytes and specific mutations. Hum Mutat16(6):528-9 2000 |
| PubMed ID: 11102984 |
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| Schwaber J, Chen RH, Premature termination of variable gene rearrangement in B lymphocytes from X-linked agammaglobulinemia. J Clin Invest81(6):2004-9 1988 |
| PubMed ID: 2838527 |
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| Schwaber J, Koenig N, Girard J, Correction of the molecular defect in B lymphocytes from X-linked agammaglobulinemia by cell fusion. J Clin Invest82(4):1471-6 1988 |
| PubMed ID: 3139715 |
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| Schwaber J, Payne J, Chen R, B lymphocytes from X-linked agammaglobulinemia. Delayed expression of light chain and demonstration of Lyonization in carriers. J Clin Invest81(2):514-22 1988 |
| PubMed ID: 3123521 |
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| Schwaber J, Lazarus H, Rosen FS, Restricted classes of immunoglobulin produced by a lymphoid cell line from a patient with agammaglobulinemia. Proc Natl Acad Sci U S A75(5):2421-3 1978 |
| PubMed ID: 209464 |
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| Schwaber JF, Rosen FS, Induction of human immunoglobulin synthesis and secretion in somatic cell hybrids of mouse myeloma and human B lymphocytes from patients with agammaglobulinemia. J Exp Med148(4):974-86 1978 |
| PubMed ID: 100574 |
| dbSNP |
dbSNP ID: 21125 |
| 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 |
1:3 |
| 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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