Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3
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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 |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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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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Family Member
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4
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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 |
9 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
ERCC3 |
| Chromosomal Location |
2q21 |
| Allelic Variant 1 |
133510.0002; XERODERMA PIGMENTOSUM, TYPE B |
| Identified Mutation |
PHE99SER; Vermeulen et al. [Am. J. Hum. Genet. 54: 191-200 (1994)] demonstrated that the two brothers with atypical xeroderma pigmentosum reported by Scott et al. [J. Am. Acad. Derm. 29: 883-889 (1993)] represented XPB patients, by microneedle injection of the cloned ERCC3 repair gene and by cell hybridization. They identified a phe99-to-ser missense mutation in the ERCC3 protein. |
| Remarks |
XPCSH4BA; clinically unaffected mother of two sons with Xeroderma pigmentosum and features of Cockayne syndrome (GM13025 and GM13026); normal UV-induced unscheduled DNA synthesis; donor subject is presumed to be heterozygous for a T>C transversion in the ERCC3 gene which results in a phenylalanine-99-to-serine missense mutation [PHE99SER (F99S)]. |
| 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 |
- |
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