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 |
| Alternate IDs |
GM17154 [XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
Black/African American
|
|
Family Member
|
2
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| MEX PHENOTYPES |
Sklar and Strauss (NATURE 289:417-420,1981) assigned this culture a mex- phenotype based upon its ability to remove O6-MeG from alkylated DNA. |
| |
| Remarks |
Clinically normal; 46,XX; 12% of cells show random chromosome loss |
| 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 |
| |
| Teitz T, Eli D, Penner M, Bakhanashvili M, Naiman T, Timme TL, Wood CM, Moses RE, Canaani D, Expression of the cDNA for the beta subunit of human casein kinase II confers partial UV resistance on xeroderma pigmentosum cells. Mutat Res236:85-97 1990 |
| PubMed ID: 1694965 |
| |
| Sklar R, Strauss B, Removal of O6-methylguanine from DNA of normal and xeroderma pigmentosum-derived lymphoblastoid lines. Nature289:417-20 1981 |
| PubMed ID: 7464910 |
| dbSNP |
dbSNP ID: 10521 |
| 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 |
|
|