Description:
XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
POLYMERASE, DNA, ETA; POLH
|
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 |
GM17013 [XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV] |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
Asian
|
|
Ethnicity
|
CHINESE
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
10 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
POLH |
| Chromosomal Location |
6p21.1-p12 |
| Allelic Variant 1 |
E22X; XERODERMA PIGMENTOSUM, VARIANT TYPE |
| Identified Mutation |
GLU22TER |
| |
| Gene |
POLH |
| Chromosomal Location |
6p21.1-p12 |
| Allelic Variant 2 |
E22X; XERODERMA PIGMENTOSUM, VARIANT TYPE |
| Identified Mutation |
GLU22TER |
| Remarks |
Chinese; XP1SF; skin hyperpigmentation and solar cancers on face; one similarly affected sib; abnormal DNA replication after UV irradiation; donor subject is homozygous for a C>T transition at nucleotide 67 of the POLH gene (67C>T) resulting in the substitution of a premature termination codon for glutamic acid at codon 22 [Glu22Ter (E22X)] |
| Johnson RE, Kondratick CM, Prakash S, Prakash L, hRAD30 mutations in the variant form of xeroderma pigmentosum. Science285(5425): 1999 |
| PubMed ID: 10398605 |
| Passage Frozen |
10 |
| 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 |
- |
|
|