GM01629
Fibroblast from Skin, Buttock
Description:
COCKAYNE SYNDROME, TYPE B; CSB
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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Biopsy Source
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Buttock
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Buttock
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Race
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White
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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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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| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
ERCC6 |
| Chromosomal Location |
10q11 |
| Allelic Variant 1 |
R670W; COCKAYNE SYNDROME, TYPE B |
| Identified Mutation |
ARG670TRP |
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| Gene |
ERCC6 |
| Chromosomal Location |
10q11 |
| Allelic Variant 2 |
1179fsX1200; COCKAYNE SYNDROME, TYPE B |
| Identified Mutation |
3615delA |
| Remarks |
Culture is a poor grower; subject is clinically affected with complementation group B; upon examination at 2 years of age, the subject weighed 20 lbs and displayed the following symptoms: mild retardation, decreased muscle mass, poor coordination, spastic diplegia, dermal photosensitivity, nystagmus, hyperpigmented retina, skull size was noted to be at the lower limits of normal, posterior wedging of the T6 - T10 vertebral bodies, steep iliac angle, slight sclerosis of the ossification center of the greater trochanters, slight angulation of the radial head, enlarged elbow joint and contracture; by age 4 years old, symptoms progressed into the fully developed syndrome and additional symptoms included: lack of skull growth, splenomegaly, and slight enlargement of kidney (See Case IV in publication by Riggs, et al - PMID: 4641186); fibroblasts have decreased post UV light and X-ray colony-forming ability (see line CS1BE referenced in several publications); donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 2087 in exon 10 of the ERCC6 gene (2087C>T) resulting in the substitution of tryptophan for arginine at codon 670 [Arg670Trp (R670W)]; a second allele has a 1 bp deletion at nucleotide 3615 in exon 18 (3615delA) causing a frameshift beginning at codon 1179 and ending with a stop codon at 1200 (1179fsX1200) (refer to CS1BE in publication by Mallery, etc al – PMID: 9443879); subject’s unaffected father is GM02474 (Lymph). |
| Rajkumar-Calkins AS, Szalat R, Dreze M, Khan I, Frazier Z, Reznichenkov E, Schnorenberg MR, Tsai YF, Nguyen H, Kochupurakkal B, D'Andrea AD, Shapiro GI, Lazaro JB, Mouw KW, Functional profiling of nucleotide Excision repair in breast cancer DNA repair82:102697 2019 |
| PubMed ID: 31499327 |
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| Tuo J, Jaruga P, Rodriguez H, Bohr VA, Dizdaroglu M, Primary fibroblasts of Cockayne syndrome patients are defective in cellular
repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress. FASEB J17(6):668-74 2003 |
| PubMed ID: 12665480 |
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| Cleaver JE, Thompson LH, Richardson AS, States JC, A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum,
Cockayne syndrome, and trichothiodystrophy. Hum Mutat14(1):9-22 1999 |
| PubMed ID: 10447254 |
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| Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR, Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet62(1):77-85 1998 |
| PubMed ID: 9443879 |
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| Jaeken J, Klocker H, Schwaiger H, Bellmann R, Hirsch-Kauffmann M, Schweiger M, Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. Hum Genet83:339-46 1989 |
| PubMed ID: 2478446 |
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| Lehmann AR, Three complementation groups in Cockayne syndrome. Mutat Res106:347-56 1982 |
| PubMed ID: 6185841 |
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| Rainbow AJ, Howes M, A deficiency in the repair of UV and gamma-ray damaged DNA in fibroblasts from Cockayne's syndrome. Mutat Res93:235-47 1982 |
| PubMed ID: 7062933 |
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| Chan GL, Little JB, Cross-sensitivity of certain xeroderma pigmentosum and Cockayne syndrome fibroblast strains to both ionizing radiation and ultraviolet light. Mol Gen Genet181:562-3 1981 |
| PubMed ID: 6943407 |
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| Tanaka K, Kawai K, Kumahara Y, Ikenaga M, Okada Y, Genetic complementation groups in cockayne syndrome. Somatic Cell Genet7:445-55 1981 |
| PubMed ID: 7280930 |
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| Andrews AD, Barrett SF, Yoder FW, Robbins JH, Cockayne's syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis. J Invest Dermatol70:237-9 1978 |
| PubMed ID: 641373 |
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| Riggs W Jr, Seibert J, Cockayne's syndrome. Roentgen findings. Am J Roentgenol Radium Ther Nucl Med116:623-33 1972 |
| PubMed ID: 4641186 |
| Passage Frozen |
7 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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