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GM13713 LCL from B-Lymphocyte

Description:

BREAST CANCER, TYPE 1; BRCA1

Affected:

Yes

Sex:

Female

Age:

58 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Hereditary Cancers
Class Heritable Cancer Syndromes and other Cancers
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Positive family history; breast cancer diagnosed at age 50 and ovarian cancer at age 56; BRCA1 germline mutation is Glu1250ter in exon 11, codon 1250

Characterizations

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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
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 
Gene BRCA1
Chromosomal Location 17q21.31
Allelic Variant 1 113705.0013; BREAST-OVARIAN CANCER
Identified Mutation GLU1250TER; Castilla et al. [Nature Genetics 8: 387-391 (1994)] studied 50 probands with a family history of breast and/or ovarian cancer for germline mutations in the coding region of the BRCA1 candidate gene. They identified a G-to-T substitution in exon 11 at position 3867, leading to a premature termination codon in place of glutamic acid-1250 and a truncated protein.

Phenotypic Data

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Remarks Positive family history; breast cancer diagnosed at age 50 and ovarian cancer at age 56; BRCA1 germline mutation is Glu1250ter in exon 11, codon 1250

Publications

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Garvin AM, A complete protein truncation test for BRCA1 and BRCA2. Eur J Hum Genet6:226-34 1998
PubMed ID: 9781026
 
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
 
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

External Links

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dbSNP dbSNP ID: 11867
Gene Cards BRCA1
Gene Ontology GO:0000151 ubiquitin ligase complex
GO:0003684 damaged DNA binding
GO:0003713 transcription coactivator activity
GO:0004842 ubiquitin-protein ligase activity
GO:0005515 protein binding
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0006357 regulation of transcription from Pol II promoter
GO:0006359 regulation of transcription from Pol III promoter
GO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
GO:0008270 zinc ion binding
GO:0008274 gamma-tubulin ring complex
GO:0015631 tubulin binding
GO:0016563 transcriptional activator activity
GO:0016567 protein ubiquitination
GO:0042127 regulation of cell proliferation
GO:0042981 regulation of apoptosis
GO:0045739 positive regulation of DNA repair
GO:0045786 negative regulation of cell cycle
GO:0046600 negative regulation of centriole replication
NCBI Gene Gene ID:672
NCBI GTR 113705 BREAST CANCER 1 GENE; BRCA1
604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1
OMIM 113705 BREAST CANCER 1 GENE; BRCA1
604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1
Omim Description BREAST CANCER 1, EARLY-ONSETBREAST-OVARIAN CANCER, INCLUDED
  BREAST CANCER, TYPE 1; BRCA1

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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