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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2
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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 Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
ERCC3 |
| Chromosomal Location |
2q21 |
| Allelic Variant 1 |
133510.0001; XERODERMA PIGMENTOSUM, TYPE B |
| Identified Mutation |
SPLICE ACCEPTOR C>A, FS; The specific mutation in the sole patient with type B xeroderma pigmentosum identified to that time was found by Weeda et al. [Cell 62: 777-791 (1990)] to be a C-to-A transversion in the splice acceptor sequence of the last intron of the only ERCC3 allele that was detectably expressed, leading to a 4-bp (GCAG) insertion in the mRNA (at position 2220) and an inactivating frameshift in the C terminus of the protein. |
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| Gene |
ERCC3 |
| Chromosomal Location |
2q21 |
| Allelic Variant 2 |
133510.0001; XERODERMA PIGMENTOSUM, TYPE B |
| Identified Mutation |
SPLICE ACCEPTOR C>A, FS; The specific mutation in the sole patient with type B xeroderma pigmentosum identified to that time was found by Weeda et al. [Cell 62: 777-791 (1990)] to be a C-to-A transversion in the splice acceptor sequence of the last intron of the only ERCC3 allele that was detectably expressed, leading to a 4-bp (GCAG) insertion in the mRNA (at position 2220) and an inactivating frameshift in the C terminus of the protein. |
| Remarks |
Clinically unaffected mother of a child with XP, group B, and features of Cockayne syndrome (GM02252); see also GM01855 (lymphoblastoid); donor subject is heterozygous for a C>A transversion in the splice acceptor sequence of the last intron of the ERCC3 gene. |
| Rubbi CP, Milner J, Analysis of nucleotide excision repair by detection of single-stranded DNA transients. Carcinogenesis22(11):1789-96 2001 |
| PubMed ID: 11698340 |
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| Gomer CJ, Rucker N, Murphree AL, Differential cell photosensitivity following porphyrin photodynamic therapy. Cancer Res48:4539-42 1988 |
| PubMed ID: 2969280 |
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| Fendrick JL, Hallick LM, Psoralen photoinactivation of herpes simplex virus: monoadduct and cross-link repair by xeroderma pigmentosum and Fanconi's anemia cells. J Invest Dermatol83:96s-101s 1984 |
| PubMed ID: 6330231 |
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| Hurt MM, Beaudet AL, Moses RE, Stable low molecular weight DNA in xeroderma pigmentosum cells. Proc Natl Acad Sci U S A80:6987-91 1983 |
| PubMed ID: 6196782 |
| Passage Frozen |
2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
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