GM16093
Fibroblast from Skin, Unspecified
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
Repository
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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
|
Unspecified
|
Cell Type
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Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
pSV3-neo plasmid
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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East Indian
|
Ethnicity
|
PAKISTANI
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
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Common Name
|
Human
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Remarks
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|
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 |
- |
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