Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
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
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Remarks |
XP1KC; extreme photosensitivity, photophobia, and rhinorrhea; negative family history |
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 |
|
Barbis DP, Schultz RA, Friedberg EC, Isolation and partial characterization of virus-transformed cell lines representing the A, G and variant complementation groups of xeroderma pigmentosum. Mutat Res165:175-84 1986 |
PubMed ID: 3010096 |
|
Schultz RA, Barbis DP, Friedberg EC, Studies on gene transfer and reversion to UV resistance in xeroderma pigmentosum cells. Somat Cell Mol Genet11:617-24 1985 |
PubMed ID: 3000003 |
dbSNP |
dbSNP ID: 14486 |
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 |
|
XERODERMA PIGMENTOSUM IV; XP4TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED |
|
XERODERMA PIGMENTOSUM VIII, FORMERLY; XP8, FORMERLY |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD |
|
XP, GROUP D; XPDC |
|
XP, GROUP H, FORMERLY; XPH, FORMERLY |
Passage Frozen |
4 |
Split Ratio |
1:3 |
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 |
15% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|
|