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
|
|
Ethnicity
|
ENGLISH/IRISH
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
XP33BE; sun sensitivity; freckling; 2 skin cancers; hearing loss; diminished deep tendon reflexes; cerebellar dysfunction; microcephaly; affected brother has severe neurologic abnormalities; see GM13035 Lymphoid |
| 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 |
3 |
| Split Ratio |
1:3 |
| 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 |
- |
|
|