Description:
DE SANCTIS-CACCHIONE SYNDROME
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| 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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HISPANIC
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Family Member
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3
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Relation to Proband
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mother
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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 |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Glucose-6-Phosphate Dehydrogenase and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically unaffected; obligate heterozygote; has three affected children including GM10903 and GM10905 for which mutations in the CSB gene are known ; see GM10900 Lymphoid |
| Batenburg NL, Mitchell TR, Leach DM, Rainbow AJ, Zhu XD, Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability Nucleic acids research40:9661-74 2012 |
| PubMed ID: 22904069 |
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| Batenburg NL, Mitchell TR, Leach DM, Rainbow AJ, Zhu XD, Xeroderma pigmentosa with severe neurological involvement without significant repair defect. Am J Hum Genet45:A47 (1989):9661-74 1989 |
| PubMed ID: 22904069 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| 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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