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
|
Black/African American
|
Ethnicity
|
KIKUYU
|
Family Member
|
2
|
Relation to Proband
|
sister
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Remarks |
G6PD type B; Phosphoglucomutase type 1; XP1NBi |
Hananian J, Cleaver JE, Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus. Clin Genet17:39-45 1980 |
PubMed ID: 7389185 |
Passage Frozen |
9 |
Split Ratio |
1:3 |
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 |
- |
|