GM21072
Fibroblast from Skin, Unspecified
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 |
Repair Defective and Chromosomal Instability Syndromes |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
White
|
|
Ethnicity
|
GERMAN
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
14 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| 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. |
| |
| Gene |
ERCC3 |
| Chromosomal Location |
2q21 |
| Allelic Variant 2 |
Q545X; XERODERMA PIGMENTOSUM, TYPE B |
| Identified Mutation |
GLN545TER |
| Remarks |
Clinically affected; severe form of the XP/CS complex; developed severe sunburn at 2 weeks of age; diagnosed at age 4 years because of freckling on sun exposed areas of face, shoulders and extremities; no skin cancers; CS features of bird-like face, increasing growth retardation, progressive hearing loss since age 7 years, and progressive loss of mental development; could walk at 20 months of age, but now has central coordination disability, walking ataxia, intention tremor, and abnormal balance; hyperopia, but no optic nerve atrophy or cataracts; absent patella and achilles tendon reflexes; Babinski sign was negative; donor subject is a compound heterozygote: the maternal allele has a C>A transversion mutation at the -6 position of the splice acceptor sequence of the ERCC3 gene in intron 14 (IVS14-6C>A)and the paternal allele has a C>T change at nucleotide 1633 in exon 10 (c.1633C>T) resulting in a glutamine at position 545 being converted to a termination codon [Gln545Ter (Q545X)] |
| 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 |
| Passage Frozen |
14 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Supplement |
- |
|