Description:
BASAL CELL NEVUS SYNDROME; BCNS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Heritable Cancer Syndromes and other Cancers |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
5 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
|
Remarks |
See GM01553 Lymphoid; clinically affected; fibroblasts are hypersensitive to cell killing by ionizing radiation |
Charazac A, Fayyad N, Beal D, Bourgoin-Voillard S, Seve M, Sauvaigo S, Lamartine J, Soularue P, Moratille S, Martin MT, Ravanat JL, Douki T, Rachidi W, Impairment of Base Excision Repair in Dermal Fibroblasts Isolated From Nevoid Basal Cell Carcinoma Patients Frontiers in oncology10:1551 2020 |
PubMed ID: 32850458 |
|
Prise KM, Belyakov OV, Folkard M, Michael BD, Studies of bystander effects in human fibroblasts using a charged particle microbeam. Int J Radiat Biol74(6):793-8 1998 |
PubMed ID: 9881726 |
|
Chan GL, Little JB, Cultured diploid fibroblasts from patients with the nevoid basal cell carcinoma syndrome are hypersensitive to killing by ionizing radiation. Am J Pathol111:50-5 1983 |
PubMed ID: 6837723 |
Passage Frozen |
5 |
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 |
- |
|
|