Description:
SUN SENSITIVE HIGH CANCER SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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NORTHERN EUROPEAN
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
First skin tumor at age 34; 4 of 4 sibs affected as well as 2 nephews; no abnormality of DNA repair or replication in fibroblasts; pedigree shows dominant inheritance |
| Cleaver JE, DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines. Mech Ageing Dev27:189-96 1984 |
| PubMed ID: 6492896 |
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| Cleaver JE, Inactivation of ultraviolet repair in normal and xeroderma pigmentosum cells by methyl methanesulfonate. Cancer Res42:860-3 1982 |
| PubMed ID: 7059984 |
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| Cleaver JE, Greene AE, Coriell L, Riccardi VM, An autosomal dominant inheritance for multiple sunlight-induced malignancy in a patient without abnormalities in DNA repair or replication. Repository identification No. GM2881. Cytogenet Cell Genet29:122-4 1981 |
| PubMed ID: 7471819 |
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| Cleaver JE, Zelle B, Hashem N, El-Hefnawi MH, German J, Xeroderma pigmentosum patients from Egypt: II. Preliminary correlations of epidemiology, clinical symptoms and molecular biology. J Invest Dermatol77:96-101 1981 |
| PubMed ID: 7252263 |
| Passage Frozen |
8 |
| 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 |
- |
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