GM21153
Fibroblast from Skin, Unspecified
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 |
Repair Defective and Chromosomal Instability Syndromes |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| PDL at Freeze |
4.83 |
| Passage Frozen |
19 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
ERCC3 |
| Chromosomal Location |
2q21 |
| Allelic Variant 1 |
p.D474EfsX475; XERODERMA PIGMENTOSUM, TYPE B |
| Identified Mutation |
1421_1422insA |
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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 affected; severe form; sun sensitivity with numerous abnormal pigmented areas; keratoses involving the nose; dysgnathia; telangiectasias; atrophic patches on sun-exposed skin; recurrent squamous cell carcinoma of his eyelid; growth and mental retardation; sensorineural deafness; optic atrophy; pigmentary retinopathy; ataxia; decreased nerve conduction velocity; enlarged cerebral ventricles; cerebellar atrophy; calcification of the basal ganglia; blood had reduced natural killer cell activity; he developed proteinuria and hypertension and died of end-stage renal failure and massive bilateral pneumonia at age 31 years; donor subject is a compound heterozygote: one allele has an insertion of an A at nucleotide 1421 (c.1421_1422insA) in exon 9 of the ERCC3 gene resulting in a substitution of glutamic acid for aspartic acid at codon 474 and the creation of a premature termination signal at codon 475 (p.D474EfsX475); the second allele has a C>A transversion at the -6 (c.2218) position in the splice acceptor sequence of intron 14 (IVS14-6C>A)leading to a 4 bp (GCAG) insertion in the mRNA at position 2220 and an inactivating frameshift in the C terminus of the protein (p.Q739insX42) |
| Zhu Q, Wani G, Sharma N, Wani A, Lack of CAK complex accumulation at DNA damage sites in XP-B and XP-B/CS fibroblasts reveals differential regulation of CAK anchoring to core TFIIH by XPB and XPD helicases during nucleotide excision repair DNA repair11:942-50 2012 |
| PubMed ID: 23083890 |
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| Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH, Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome HUMAN MUTATION27(11):1092-103 2006 |
| PubMed ID: 16947863 |
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| Bartenjev I, Butina MR, Potocnik M, Rare case of Cockayne syndrome with xeroderma pigmentosum Acta dermato-venereologica80:213-4 2000 |
| PubMed ID: 10954218 |
| Passage Frozen |
19 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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