GM13708
LCL from B-Lymphocyte
Description:
BREAST CANCER, TYPE 1; BRCA1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Heritable Cancer Syndromes and other Cancers |
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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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| 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 MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| Gene |
BRCA1 |
| Chromosomal Location |
17q21.31 |
| Allelic Variant 1 |
Y1563X; BREAST CANCER, TYPE 1 |
| Identified Mutation |
TYR1563TER |
| Remarks |
Positive family history; diagnosed at age 62; BRCA1 germline mutation is 4808 C>G in exon 16, resulting in a nonsense mutation in codon 1563 (Tyr1563Ter, Y1563X) |
| Hennessy LK, Teare J, Ko C, PCR conditions and DNA denaturants affect reproducibility of single-strand conformation polymorphism patterns for BRCA1 mutations. Clin Chem44:879-82 1998 |
| PubMed ID: 9554503 |
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| Garvin AM, Spycher M, Haner M, Torhorst J, Muller H, Herrmann R, Rochlitz C, Weber W, Scott RJ, BRCA1 mutations in a selected series of breast/ovarian cancer patients. J Med Genet33:721-5 1996 |
| PubMed ID: 8880569 |
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| Castilla LH, Couch FJ, Erdos MR, Hoskins KF, Calzone K, Garber JE, Boyd J, Lubin MB, Deshano ML, Brody LC, et al, Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat Genet8:387-91 1994 |
| PubMed ID: 7894491 |
| dbSNP |
dbSNP ID: 11862 |
| Gene Cards |
BRCA1 |
| Gene Ontology |
GO:0000151 ubiquitin ligase complex |
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GO:0003684 damaged DNA binding |
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GO:0003713 transcription coactivator activity |
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GO:0004842 ubiquitin-protein ligase activity |
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GO:0005515 protein binding |
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GO:0005615 extracellular space |
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GO:0005622 intracellular |
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GO:0005634 nucleus |
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GO:0005667 transcription factor complex |
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GO:0006357 regulation of transcription from Pol II promoter |
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GO:0006359 regulation of transcription from Pol III promoter |
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GO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator |
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GO:0008270 zinc ion binding |
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GO:0008274 gamma-tubulin ring complex |
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GO:0015631 tubulin binding |
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GO:0016563 transcriptional activator activity |
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GO:0016567 protein ubiquitination |
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GO:0042127 regulation of cell proliferation |
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GO:0042981 regulation of apoptosis |
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GO:0045739 positive regulation of DNA repair |
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GO:0045786 negative regulation of cell cycle |
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GO:0046600 negative regulation of centriole replication |
| NCBI Gene |
Gene ID:672 |
| NCBI GTR |
113705 BREAST CANCER 1 GENE; BRCA1 |
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604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1 |
| OMIM |
113705 BREAST CANCER 1 GENE; BRCA1 |
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604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1 |
| Omim Description |
BREAST CANCER 1, EARLY-ONSETBREAST-OVARIAN CANCER, INCLUDED |
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BREAST CANCER, TYPE 1; BRCA1 |
| 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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