Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
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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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Relation to Proband
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proband
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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 |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
XP1PO; erythema, freckling, scaling, and drying of skin; neurological problems; imperforate anus, and peripheral pulmonic stenosis; paternal side of family has a history of Charcot-Marie-Tooth disease; 46,XY |
| Squires S, Coates JA, Goldberg M, Toji LH, Jackson SP, Clarke DJ, Johnson RT, p53 prevents the accumulation of double-strand DNA breaks at stalled-replication forks induced by UV in human cells. Cell Cycle3(12):1543-57 2004 |
| PubMed ID: 15539956 |
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| Kim J, Chubatsu LS, Admon A, Stahl J, Fellous R, Linn S, Implication of mammalian ribosomal protein S3 in the processing of DNA damage. J Biol Chem270:13620-9 1995 |
| PubMed ID: 7775413 |
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| Johnson RT, Squires S, The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. Mutat Res273(2):97-118 1992 |
| PubMed ID: 1372108 |
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| Karentz D, Cleaver JE, Excision repair in xeroderma pigmentosum group C but not group D is clustered in a small fraction of the total genome. Mutat Res165:165-74 1986 |
| PubMed ID: 3084965 |
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| Cleaver JE, Charles WC, Kong SH, Efficiency of repair of pyrimidine dimers and psoralen monoadducts in normal and xeroderma pigmentosum human cells. Photochem Photobiol40:621-9 1984 |
| PubMed ID: 6514810 |
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| Cleaver JE, Rapid complementation method for classifying excision repair-defective xeroderma pigmentosum cell strains. Somatic Cell Genet8:801-10 1982 |
| PubMed ID: 7163956 |
| dbSNP |
dbSNP ID: 15420 |
| NCBI GTR |
278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| OMIM |
278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
| Omim Description |
TRICHOTHIODYSTROPHY, TYPE 1, INCLUDED; TDD1, INCLUDED |
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XERODERMA PIGMENTOSUM IV; XP4TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED |
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XERODERMA PIGMENTOSUM VIII, FORMERLY; XP8, FORMERLY |
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
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XP, GROUP D; XPDC |
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XP, GROUP H, FORMERLY; XPH, FORMERLY |
| Passage Frozen |
7 |
| Split Ratio |
1:4 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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