GM16398
Fibroblast from Skin, Unspecified
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
ERCC5 |
| Chromosomal Location |
13q33 |
| Allelic Variant 1 |
Q136X; XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME |
| Identified Mutation |
GLN136TER |
| |
| Gene |
ERCC5 |
| Chromosomal Location |
13q33 |
| Allelic Variant 2 |
A874T; XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME |
| Identified Mutation |
ALA874THR |
| Remarks |
XP65BE; clinically affected; sun sensitivity; several blistering sunburns on minimal exposure; no skin cancers; mild freckling on face; mild XP with no neurological abnormalities; unscheduled DNA synthesis is 10.8% of normal; GM16024 is a lymphoblastoid cell line from the same individual; donor subject is a compound heterozygote: the paternal allele carries a C>T transition at nucleotide 603 (603C>T) in exon 4 of the ERCC5 gene resulting in a nonsense mutation at codon 136 [Gln136TER (Q136X); the maternal allele carries a G>A transition at nucleotide 2817 (2817G>A) in exon 12 resulting in a missense mutation at codon 874 [Ala874Thr (A874T). |
| 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: 19982 |
| Gene Cards |
ERCC5 |
| Gene Ontology |
GO:0003697 single-stranded DNA binding |
|
GO:0004520 endodeoxyribonuclease activity |
|
GO:0005634 nucleus |
|
GO:0006283 transcription-coupled nucleotide-excision repair |
|
GO:0007605 perception of sound |
|
GO:0016787 hydrolase activity |
| NCBI Gene |
Gene ID:2073 |
| NCBI GTR |
133530 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5 |
|
278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG |
| OMIM |
133530 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5 |
|
278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG |
| Omim Description |
XERODERMA PIGMENTOSUM VII |
| |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G |
| |
XP, GROUP G; XPG |
| |
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 |
- |
|
|