Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; 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
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Biochemical characterization before cell line submission to CCR
|
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 |
|
Remarks |
XP44RO(MEL); culture established from a melanoma shows UV sensitivity & reduced unscheduled DNA synthesis; pt has had many skin tumors including basal cell carcinomas & a squamous cell carcinoma; no neurologic abnorms; passage 2 at CCR |
Keijzer W, Mulder MP, Langeveld JC, Smit EM, Bos JL, Bootsma D, Hoeijmakers JH, Establishment and characterization of a melanoma cell line from a xeroderma pigmentosum patient: activation of N-ras at a potential pyrimidine dimer site. Cancer Res49:1229-35 1989 |
PubMed ID: 2645048 |
Split Ratio |
1:5 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent |
Serum |
10% fetal bovine serum Heat Inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|