GM16023
LCL from B-Lymphocyte
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5
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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 |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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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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LCL from B-Lymphocyte
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Race
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White
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Family Member
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2
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Relation to Proband
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mother
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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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| Gene |
ERCC5 |
| Chromosomal Location |
13q33 |
| Allelic Variant 1 |
Q136X; XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME |
| Identified Mutation |
GLN136TER |
| Remarks |
Mother of an affected child (GM16024) |
| Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D, Khan SG, Abu-Libdeh B, DiGiovanna JJ, Cunningham BB, Lee MM, Crollick J, Inui H, Ueda T, Hedayati M, Grossman L, Shahlavi T, Cleaver JE, Kraemer KH, Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group g patients. J Invest Dermatol118(6):972-82 2002 |
| PubMed ID: 12060391 |
| dbSNP |
dbSNP ID: 21622 |
| Gene Cards |
ERCC5 |
| Gene Ontology |
GO:0003697 single-stranded DNA binding |
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GO:0004520 endodeoxyribonuclease activity |
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GO:0005634 nucleus |
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GO:0006283 transcription-coupled nucleotide-excision repair |
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GO:0007605 perception of sound |
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GO:0016787 hydrolase activity |
| NCBI Gene |
Gene ID:2073 |
| NCBI GTR |
133530 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5 |
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278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG |
| OMIM |
133530 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5 |
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278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG |
| Omim Description |
XERODERMA PIGMENTOSUM VII |
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G |
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XP, GROUP G; XPG |
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XP7 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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