GM01857

GM01857 LCL from B-Lymphocyte

Description:

COCKAYNE SYNDROME, TYPE A; CSA

Affected:

Yes

Sex:

Male

Age:

13 YR (At Sampling)

Overview

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

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

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

Characterizations

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.

Phenotypic Data

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

Publications

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