GM16089
Fibroblast from Skin, Unspecified
Description:
LIG4 SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
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Biopsy Source
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Unspecified
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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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pSVneo
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Sample Source
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Fibroblast from Skin, Unspecified
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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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
SV40 (pSVneo) transformed GM16088; pre-crisis and not immortal; subject with pronounced radiosensitivity but normal viability and without major immune dysfunction; subject died of leukemia; cell lines from normal tissue show pronounced radiosensitivity attributable to defect in DNA ligase IV and are unable to repair DNA double strand breaks |
| Muylaert I, Elias P, Knockdown of DNA ligase IV/XRCC4 by RNA interference inhibits herpes simplex virus type I DNA replication The Journal of biological chemistry282:10865-72 2007 |
| PubMed ID: 17296606 |
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| Riballo E, Critchlow SE, Teo SH, Doherty AJ, Priestley A, Broughton B, Kysela
B, Beamish H, Plowman N, Arlett CF, Lehmann AR, Jackson SP, Jeggo PA, Identification of a defect in DNA ligase IV in a radiosensitive leukaemia
patient. Curr Biol9(13):699-702 1999 |
| PubMed ID: 10395545 |
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| Nelms BE, Maser RS, MacKay JF, Lagally MG, Petrini JH, In situ visualization of DNA double-strand break repair in human fibroblasts. Science280(5363):590-2 1998 |
| PubMed ID: 9554850 |
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| Badie C, Iliakis G, Foray N, Alsbeih G, Pantellias GE, Okayasu R, Cheong N, Russell NS, Begg AC, Arlett CF, et al, Defective repair of DNA double-strand breaks and chromosome damage in fibroblasts from a radiosensitive leukemia patient. Cancer Res55(6):1232-4 1995 |
| PubMed ID: 7882314 |
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| Plowman PN, Bridges BA, Arlett CF, Hinney A, Kingston JE, An instance of clinical radiation morbidity and cellular radiosensitivity, not associated with ataxia-telangiectasia. Br J Radiol63(752):624-8 1990 |
| PubMed ID: 2400879 |
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| Jaspers NG, Gatti RA, Baan C, Linssen PC, Bootsma D, Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet Cell Genet49:259-63 1988 |
| PubMed ID: 3248383 |
| Split Ratio |
1:10 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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