Scudiero D A, Moshell A N, Scarpinato R G, Meyer S A, Clatterbuck B E, Tarone R E, Robbins J H
J Invest Dermatol. 1982 Mar;78(3):234-8. doi: 10.1111/1523-1747.ep12506550.
Lymphoblastoid lines, derived by transforming peripheral blood lymphocytes with Epstein-Barr virus, and skin fibroblast lines were established from two patients with tuberous sclerosis. The number of viable lymphoblastoid cells was determined by their ability to exclude the vital dye trypan blue after their irradiation with x-rays or 254 nm ultraviolet light. The growth of fibroblasts was determined by their ability to form colonies after treatment with the radiomimetic, DNA-damaging chemical N-methyl-N'-nitro-N-nitrosoguanidine. The tuberous sclerosis lymphoblastoid lines were hypersensitive to x-rays but had normal sensitivity to the ultraviolet radiation. The tuberous sclerosis fibroblast lines were hypersensitive to the N-methyl-N'-nitro-N-nitrosoguanidine. The hypersensitivity of tuberous sclerosis cells to x-rays and to N-methyl-N'-nitro-N-nitrosoguanidine is believed to reflect defective repair of DNA damaged by these agents and may provide the basis for in vitro, including prenatal, diagnostic tests for tuberous sclerosis.
从两名结节性硬化症患者身上建立了淋巴母细胞系（通过用爱泼斯坦 - 巴尔病毒转化外周血淋巴细胞获得）和皮肤成纤维细胞系。通过用X射线或254纳米紫外线照射后，淋巴母细胞系存活细胞的数量由其排斥活性染料台盼蓝的能力来确定。成纤维细胞的生长通过用拟放射性、DNA损伤化学物质N - 甲基 - N'- 硝基 - N - 亚硝基胍处理后形成集落的能力来确定。结节性硬化症淋巴母细胞系对X射线高度敏感，但对紫外线辐射敏感性正常。结节性硬化症成纤维细胞系对N - 甲基 - N'- 硝基 - N - 亚硝基胍高度敏感。结节性硬化症细胞对X射线和N - 甲基 - N'- 硝基 - N - 亚硝基胍的高度敏感性被认为反映了这些试剂损伤的DNA修复缺陷，并可能为包括产前诊断在内的结节性硬化症体外诊断测试提供基础。
