GM16180
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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Ethnicity
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PALESTINIAN
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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 |
; XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME |
| Identified Mutation |
1116delTC |
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| Gene |
ERCC5 |
| Chromosomal Location |
13q33 |
| Allelic Variant 2 |
; XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME |
| Identified Mutation |
1116delTC |
| Remarks |
XP96TA; clinically affected with xeroderma pigmentosum and Cockayne syndrome; marked sun sensitivity; pigmentary changes; no skin cancers; hypertelorism; progressive neurological degeneration; weight loss; developmental delay; microcephaly; small stature; café au lait spots on trunk; slight microphthalmia; prominent nasal bridge; high arched palate; deceased brother also affected; product of a consanguineous mating; donor subject is homozygous for a deletion of two bases (TC) at nucleotide 1116 (1116delTC) in exon 8 of the ERCC5 gene leading to a frameshift at codon 308 (L308fsX320) and the creation of a stop codon resulting in a truncated protein. |
| Alupei MC1, Maity P1, Esser PR2, Krikki I1, Tuorto F3, Parlato R4, Penzo M5, Schelling A1, Laugel V6, Montanaro L5, Scharffetter-Kochanek K1, Iben S, Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome Cell Reports23:1612-1619 2018 |
| PubMed ID: 29742419 |
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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 |
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| Slor H, Batko S, Khan SG, Sobe T, Emmert S, Khadavi A, Frumkin A, Busch DB, Albert RB, Kraemer KH, Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life. J Invest Dermatol115(6):974-80 2000 |
| PubMed ID: 11121128 |
| dbSNP |
dbSNP ID: 16975 |
| 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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