Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
10 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Gene |
ERCC5 |
| Chromosomal Location |
13q33 |
| Allelic Variant 1 |
; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG |
| Identified Mutation |
c.1494delA (p.Asp499Ilefs) |
| |
| Gene |
ERCC5 |
| Chromosomal Location |
13q33 |
| Allelic Variant 2 |
; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG |
| Identified Mutation |
c.2751delA (p.Lys917Asnfs) |
| Remarks |
XP3BR; clinically affected |
| Le Page F, Kwoh EE, Avrutskaya A, Gentil A, Leadon SA, Sarasin A, Cooper PK, Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and
CSB and implications for Cockayne syndrome. Cell101(2):159-71 2000 |
| PubMed ID: 10786832 |
| |
| Schultz RA, Barbis DP, Friedberg EC, Studies on gene transfer and reversion to UV resistance in xeroderma pigmentosum cells. Somat Cell Mol Genet11:617-24 1985 |
| PubMed ID: 3000003 |
| |
| Cleaver JE, DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines. Mech Ageing Dev27:189-96 1984 |
| PubMed ID: 6492896 |
| |
| Arlett CF, Priestley A, Defective recovery from potentially lethal damage in some human fibroblast cell strains. Int J Radiat Biol43:157-167 1983 |
| PubMed ID: 6600729 |
| Passage Frozen |
10 |
| Split Ratio |
1:5 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|