Description:
COCKAYNE SYNDROME, TYPE A; CSA
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; ERCC8
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Quantity |
10ug |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| 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).
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| 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. |
| 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)] |
| 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 |
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| 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 |
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