Immortalization of four new Fanconi anemia fibroblast cell lines by an improved procedure
Immortalization of four new Fanconi anemia fibroblast cell lines by an improved procedure
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DOI：
10.1007/bf02369905
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发表时间：
1996-03-01
期刊：
影响因子：
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通讯作者：
Grompe, M
中科院分区：
文献类型：
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作者：
Jakobs, PM;Sahaayaruban, P;Grompe, M
范可尼贫血 (FA) 是一种常染色体隐性遗传疾病，其特征是出生缺陷、进行性骨髓衰竭和白血病风险增加。 FA 细胞在 DNA 交联剂的作用下表现出染色体断裂和细胞杀伤增加。细胞互补研究已经确定了至少 5 个基因，但迄今为止仅克隆了其中一个基因，即 FAC。由于缺乏永生化 FA 成纤维细胞系，通过功能互补来定位和分离新 FA 基因的努力受到了阻碍。在这里，我们报告了使用一种新的永生化策略来创建 4 个新的永生化 FA 成纤维细胞系，其中包括一个来自罕见的互补组 D 的细胞系。
Fanconi anemia (FA) is an autosomal recessive disease characterized by birth defects, progressive bone marrow failure and increased risk for Leukemia. FA cells display chromosome breakage and increased cell killing in response to DNA crosslinking agents. At least 5 genes have been defined by cell complementation studies, but only one of these, FAC has been cloned to date. Efforts to map and isolate new FA genes by functional complementation have been hampered by the lack of immortalized FA fibroblast cell lines. Here we report the use of a novel immortalization strategy to create 4 new immortalized FA fibroblast lines, including one from the rare complementation group D.