GM01857
LCL from B-Lymphocyte
Description:
COCKAYNE SYNDROME, TYPE A; CSA
|
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
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 positive result with a primer for Yq11, DYS227. |
| |
| Remarks |
HLA type: A9,A11;B7,Bw15; see GM01856B Fibroblast; fibroblasts show markedly decreased post UV light colony-forming ability and same x-ray sensitivity as normal cells; patient is CS3BE |
| Kim N, Kage K, Matsuda F, Lefranc MP, Storb U, B lymphocytes of xeroderma pigmentosum or Cockayne syndrome patients with inherited defects in nucleotide excision repair are fully capable of somatic hypermutation of immunoglobulin genes. J Exp Med186:413-9 1997 |
| PubMed ID: 9236193 |
| |
| 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 |
| |
| Sequin, Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome & complementation group C xeroderma pigmentosum patients: Lack of correlation with cancer susceptibility. Am J Hum Genet42:468 (1988):3384-90 1988 |
| PubMed ID: 2054778 |
| |
| Fernsten PD, Pekny KW, Reisfeld RA, Walker LE, Antigens associated with human squamous cell lung carcinoma defined by murine monoclonal antibodies. Cancer Res46:2970-7 1986 |
| PubMed ID: 3009005 |
| |
| Otsuka F, Kukita A, Ultraviolet hypersensitivity of Cockayne syndrome lymphoblastoid lines-- the effects of exogenous beta-nicotinamide adenine dinucleotide. Photochem Photobiol44:757-60 1986 |
| PubMed ID: 3562572 |
| |
| Walker LE, Ketler TA, Houghten RA, Schulz G, Chersi A, Reisfeld RA, Human major histocompatibility complex class I antigens: residues 61-83 of the HLA-B7 heavy chain specify an alloreactive site. Proc Natl Acad Sci U S A82:539-42 1985 |
| PubMed ID: 3881768 |
| Split Ratio |
1:4 |
| 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 |
- |
|