AG07075

AG07075 LCL from B-Lymphocyte

Description:

COCKAYNE SYNDROME, TYPE A; CSA
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; ERCC8
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES

Affected:

Yes

Sex:

Female

Age:

11 YR (At Sampling)

Overview

Repository

NIA Aging Cell Culture Repository

Subcollection

Heritable Diseases

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

The donor has clinical features of photophobia, dwarfism, mental retardation, cataracts, retinopathy and optic atrophy. The culture was initiated on 9/23/83 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. A skin fibroblast culture from the same donor is AG07076. Donor subject is a compound heterozygote: one allele has a G>T transversion at nucleotide 73 of the CKN1 gene (c.73G>T) resulting in a glu13-to-ter substitution [Glu13Ter (E13X)] and the second allele has a G>C transversion at nucleotide 649 (c.649G>C) resulting in an ala205-to-pro substitution [Ala205Pro (A205P)]

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Gene

CKN1

Chromosomal Location

Chr.5

Allelic Variant 1

609412.0003; COCKAYNE SYNDROME, TYPE A

Identified Mutation

GLU13TER; In a cell line from a patient with Cockayne syndrome type A (216400), Cao et al. (J Hum Genet 49:61-63, 2004) identified compound heterozygosity for 2 mutations in the ERCC8 gene: a 649G-C transversion, resulting in an ala205-to-pro (A205P) substitution, and E13X (609412.0003).

Gene

CKN1

Chromosomal Location

Chr.5

Allelic Variant 2

609412.0005; COCKAYNE SYNDROME, TYPE A

Identified Mutation

ALA205PRO; In a cell line from a patient with Cockayne syndrome type A (216400), Cao et al. (J Hum Genet 49:61-63, 2004) identified compound heterozygosity for 2 mutations in the ERCC8 gene: a G-to-T transversion, resulting in a glu13-to-ter (E13X) substitution, and A205P (609412.0005). The patient was an 11-year-old girl with photophobia, dwarfism, mental retardation, cataracts, retinopathy, and optic atrophy.

Phenotypic Data

Remarks

Publications

Cao H, Williams C, Carter M, Hegele RA, CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism Journal of human genetics49:61-3 2003

PubMed ID: 14661080

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):61-3 1988

PubMed ID: 14661080