Spontaneous mutation in both thymidine kinase & hypoxanthine-guanine phosphoribosyltransferase genes in human diploid lymphoblast cell line, TK6

Range ~2×10^-7 mutations/gene/division
Organism Human Homo sapiens
Reference Jackson AL, Loeb LA. The mutation rate and cancer. Genetics. 1998 Apr148(4):1483-90. p.1483 right column bottom paragraphPubMed ID9560368
Primary Source Oller AR, Rastogi P, Morgenthaler S, Thilly WG. A statistical model to estimate variance in long term-low dose mutation assays: testing of the model in a human lymphoblastoid mutation assay. Mutat Res. 1989 Jun216(3):149-61.PubMed ID2733715
Method Primary source abstract: "Long term-low dose mutation assays offer a means to study the genetic effects of environmental mutagens at concentrations relevant to human exposure. These assays involve continuous induction of mutants, serial dilution of cultures and sampling to determine the mutant fraction as a function of time and mutagen concentration. An arithmetic model for the expected variance among identically treated cultures is presented. This model provides means to calculate a predicted variance of the mutant fractions and mutation rates in typical long term-low dose experiments."
Comments P.1483 right column bottom paragraph: "[Investigators] have asked what is the contribution of spontaneous mutations to the multiple mutations that are found in human cancers. Estimates of the spontaneous mutation rates in human cells have been mainly obtained from studies on cells grown in culture. The spontaneous mutation of a human diploid lymphoblast cell line, TK6, heterozygous for thymidine kinase and containing one copy of hypoxanthine-guanine phosphoribosyltransferase has been measured extensively. The mutation rates for both genes are approximately 2.0 × 10^−7 mutations/gene/division (primary source)."
Entered by Uri M
ID 112676