GM16093
Fibroblast from Skin, Unspecified
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
pSV3-neo plasmid
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
East Indian
|
|
Ethnicity
|
PAKISTANI
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
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 |
SV40 (pSV3neo) transformed GM16092; xeroderma pigmentosum complementation group C; UVC irradiation induces less than 10% of normal unscheduled DNA synthesis; several facial tumors; cells show unusual sensitivity to ionizing radiation; some features of Fanconi anemia are present including gradual and late onset of pancytopenia, short stature, and good response to androgen therapy; cells do not show increased chromosomal sensitivity to mytomycin C or diepoxybutane; parents are second cousins |
| Hung KF, Sidorova JM, Nghiem P, Kawasumi M, The 6-4 photoproduct is the trigger of UV-induced replication blockage and ATR activation Proceedings of the National Academy of Sciences of the United States of America: 2020 |
| PubMed ID: 32444488 |
| |
| Pathania S, Nguyen J, Hill SJ, Scully R, Adelmant GO, Marto JA, Feunteun J, Livingston DM, BRCA1 Is Required for Postreplication Repair after UV-Induced DNA Damage Molecular cell44:235-51 2010 |
| PubMed ID: 21963239 |
| Split Ratio |
1:5 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|