GM16181
Fibroblast from Skin, Unspecified
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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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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Untransformed
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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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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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| Gene |
ERCC5 |
| Chromosomal Location |
13q33 |
| Allelic Variant 1 |
Q16X; XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME |
| Identified Mutation |
GLN16TER |
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| Gene |
ERCC5 |
| Chromosomal Location |
13q33 |
| Allelic Variant 2 |
; XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME |
| Identified Mutation |
2801delTG |
| Remarks |
XP82DC; clinically affected with xeroderma pigmentosum and Cockayne syndrome; sun sensitivity; pigmentary changes; neurological degeneration; developmental delay; no skin cancers; death due to fulmanent liver failure at age 6 yr; <1% of normal DNA repair capability; microcephaly; ataxic with unsteady head-hand-eye coordination; donor subject is a compound heterozygote; one allele carries a C>T transition at nucleotide 243 (243C>T) in exon 1 of the ERCC5 gene resulting in a nonsense mutation at codon 16 [GLN16TER (Q16X); the second allele carries a deletion of two bases (TG) at nucleotide 2801 (2801delTG) in exon 12 leading to a frameshift at codon 869 (869fsX879) and the creation of a stop codon downstream; both mutations are predicted to lead to severely truncated ERCC5 proteins. |
| Kong YW, Dreaden EC, Morandell S, Zhou W, Dhara SS, Sriram G, Lam FC, Patterson JC, Quadir M, Dinh A, Shopsowitz KE, Varmeh S, Yilmaz ÖH, Lippard SJ, Reinhardt HC, Hemann MT, Hammond PT, Yaffe MB, Enhancing chemotherapy response through augmented synthetic lethality by co-targeting nucleotide excision repair and cell-cycle checkpoints Nature communications11:4124 2018 |
| PubMed ID: 32807787 |
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| 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: 19125 |
| 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 |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) 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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