GM15877
Fibroblast from Skin, Unspecified
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Engineered Cell Cultures |
| 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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Simian Virus 40
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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 |
The cell line (also known as D6BE-ER2-9) is a derivative of the SV40 Transformed immortalized version of the primary xeroderma pigmentosum fibroblast complementation group D fibroblast GM08207 (XP6BE), which was subsequently transfected with p2E-ER2, a complementary DNA expression construct of the ERCC2 (XPD) gene, to correct the abnormal phenotype; GM15877 shows normal cellular resistance to UV irradiation, normal DNA repair of damaged shuttle vector plasmid and restoration of transcription of a UV damaged CAT expression vector; the XPD protein expression is about 18 fold greater than in the SV40 Transformed parent ( Gozukara et al, Cancer Res, 54:3837-44,1994); the corrected phenotype of GM15877 requires selection with 0.6mg/ml of Geneticin (G418) |
| Essawy M, Chesner L, Alshareef D, Ji S, Tretyakova N, Campbell C, Ubiquitin signaling and the proteasome drive human DNA-protein crosslink repair Nucleic acids research51:12174-12184 2023 |
| PubMed ID: 37843153 |
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| Yoder K, Sarasin A, Kraemer K, McIlhatton M, Bushman F, Fishel R, The DNA repair genes XPB and XPD defend cells from retroviral infection Proceedings of the National Academy of Sciences of the United States of America103:4622-7 2006 |
| PubMed ID: 16537383 |
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| Johnson RT, Squires S, The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. Mutat Res273(2):97-118 1992 |
| PubMed ID: 1372108 |
| dbSNP |
dbSNP ID: 19618 |
| Gene Cards |
ERCC2 |
| Gene Ontology |
GO:0000287 magnesium ion binding |
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GO:0003677 DNA binding |
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GO:0004003 ATP-dependent DNA helicase activity |
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GO:0005515 protein binding |
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GO:0005524 ATP binding |
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GO:0005634 nucleus |
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GO:0005675 transcription factor TFIIH complex |
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GO:0006283 transcription-coupled nucleotide-excision repair |
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GO:0006355 regulation of transcription, DNA-dependent |
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GO:0006366 transcription from Pol II promoter |
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GO:0006917 induction of apoptosis |
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GO:0007605 perception of sound |
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GO:0016787 hydrolase activity |
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GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides |
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GO:0043139 5' to 3' DNA helicase activity |
| NCBI Gene |
Gene ID:2068 |
| NCBI GTR |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
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278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| OMIM |
126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 |
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278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| Omim Description |
TRICHOTHIODYSTROPHY, TYPE 1, INCLUDED; TDD1, INCLUDED |
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XERODERMA PIGMENTOSUM IV; XP4TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED |
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XERODERMA PIGMENTOSUM VIII, FORMERLY; XP8, FORMERLY |
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
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XP, GROUP D; XPDC |
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XP, GROUP H, FORMERLY; XPH, FORMERLY |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| 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 |
Geneticin 0.6 mg/ml |
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