GM16954
LCL from B-Lymphocyte
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
Repository
|
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 |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Family Member
|
4
|
Relation to Proband
|
brother
|
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 |
|
Remarks |
XP34BE; clinically affected; marked sun sensitivity, but was well protected; now has minimal skin changes; freckling of lips; reduced post-UV cell survival; bilateral ptygeria of conjunctiva; affected sister is GM16956; see GM16955 Fibroblast |
dbSNP |
dbSNP ID: 21604 |
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 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
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