Coriell Institute
Bloom Syndrome Collection

Bloom syndrome (OMIM # 210900) is a disorder of DNA repair characterized by chromosomal instability, predisposition to malignancy, growth deficiency, and sun-sensitive facial telangiectasias. Bloom syndrome, which is an autosomal recessive disorder, is caused by mutations in the RECQL3 gene (OMIM # 604610) and has an increased incidence in the Ashkenazi Jewish population.

Our collection of Bloom syndrome cell lines came from nineteen individuals. There are ten affected males and nine affected females ranging in age from two to forty-three years. All of the cell lines within this collection have identified mutations in the RECQL3 gene representing thirteen different mutations.

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

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