GM16370
Fibroblast from Skin, Unspecified
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
Repository
|
NIGMS Human Genetic Cell Repository
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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
|
4
|
Relation to Proband
|
paternal cousin
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
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Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Remarks |
XP86BE; clinically affected cousin of GM17418; sun sensitivity; freckling; hyper- & hypo-pigmentation; skin atrophy; neurological abnormalities; several skin cancers since age 7 years including basal cell carcinoma, squamous cell carcinoma, and melanoma; low levels of unscheduled DNA synthesis; see GM17422 Lymphoid |
Split Ratio |
1:4 |
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 |
- |
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