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GM02474 LCL from B-Lymphocyte

Description:

COCKAYNE SYNDROME, TYPE B; CSB

Affected:

No Data

Sex:

Male

Age:

29 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
Class Disorders of Connective Tissue, Muscle, and Bone
Class Repair Defective and Chromosomal Instability Syndromes
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 2
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Affected daughter is GM01629 Fibroblast

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Affected daughter is GM01629 Fibroblast

Publications

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Hansson J, Keyse SM, Lindahl T, Wood RD, DNA excision repair in cell extracts from human cell lines exhibiting hypersensitivity to DNA-damaging agents. Cancer Res51:3384-90 1991
PubMed ID: 2054778

External Links

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dbSNP dbSNP ID: 18092
Gene Ontology GO:0003677 DNA binding
GO:0003678 DNA helicase activity
GO:0003702 RNA polymerase II transcription factor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0006281 DNA repair
GO:0006355 regulation of transcription, DNA-dependent
GO:0006366 transcription from Pol II promoter
GO:0007605 perception of sound
GO:0008026 ATP-dependent helicase activity
NCBI Gene Gene ID:2074
NCBI GTR 133540 COCKAYNE SYNDROME B; CSB
OMIM 133540 COCKAYNE SYNDROME B; CSB
Omim Description COCKAYNE SYNDROME, TYPE II, INCLUDED
  EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY, COMPLEMENTATIONGROUP 6; ERCC6
  RAD26 (YEAST) HOMOLOGCOCKAYNE SYNDROME, TYPE B, INCLUDED; CSB, INCLUDED

Culture Protocols

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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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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