Coriell Institute
Fanconi Anemia Collection

Fanconi anemia (OMIM # 227650) is an autosomal recessive disorder characterized by congenital anomalies, bone marrow failure and an increased incidence of malignancy. Increased chromosome breakage in the presence of diepoxybutane or mitomycin C is also a feature of Fanconi anemia, for which there are at least 11 different complementation groups.

Our collection of Fanconi anemia cell lines came from twenty-five individuals, twenty-four of whom are affected. This collection contains cell lines representing six different complementation groups including A, B, C, D, F, and G. There are four unique cell lines with identified mutations in the FANCC gene (OMIM # 227645), representing three different mutations, and one cell line with two different mutations in the FANCD2 gene (OMIM # 227646).

Detailed clinical information from the twenty-four affected individuals is summarized in a table and is available for download as an  Excel spreadsheet .

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