Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB
EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
2
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Biochemical characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| 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. |
| |
| Gene |
ERCC3 |
| Chromosomal Location |
2q21 |
| Allelic Variant 2 |
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 |
XPCS2BA; also has features of Cockayne syndrome; no evidence of malignancy; bilateral sensorineural hearing loss; dry skin; numerous freckles; hyperpigmented macules; broad-based choreoathetotic gait; brother of GM13025; donor subject is homozygous for a T>C transversion in the ERCC3 gene which results in a phenylalanine-99-to-serine missense mutation [PHE99SER (F99S)]. |
| 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 |
| |
| 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 |
| |
| Le Page F, Kwoh EE, Avrutskaya A, Gentil A, Leadon SA, Sarasin A, Cooper PK, Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and
CSB and implications for Cockayne syndrome. Cell101(2):159-71 2000 |
| PubMed ID: 10786832 |
| |
| Cleaver JE, Thompson LH, Richardson AS, States JC, A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum,
Cockayne syndrome, and trichothiodystrophy. Hum Mutat14(1):9-22 1999 |
| PubMed ID: 10447254 |
| |
| Davis K, Tomkins DJ, Rainbow AJ, Roberts syndrome fibroblasts showing cisplatin hypersensitivity have normal host cell reactivation of cisplatin-treated adenovirus and normal capacity of cisplatin-treated cells for adenovirus DNA synthesis. Somat Cell Mol Genet22:393-402 1996 |
| PubMed ID: 9039848 |
| |
| Vermeulen W, Scott RJ, Rodgers S, Muller HJ, Cole J, Arlett CF, Kleijer WJ,
Bootsma D, Hoeijmakers JH, Weeda G, Clinical heterogeneity within xeroderma pigmentosum associated with mutations in
the DNA repair and transcription gene ERCC3. Am J Hum Genet54(2):191-200 1994 |
| PubMed ID: 8304337 |
| |
| Scott RJ, Itin P, Kleijer WJ, Kolb K, Arlett C, Muller H, Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin
tumors despite severe deficiency of DNA excision repair. J Am Acad Dermatol29(5 Pt 2):883-9 1993 |
| PubMed ID: 8408834 |
| Passage Frozen |
9 |
| Split Ratio |
1:4 |
| 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 |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|