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A Cell's Journey: Repository Plays Key Role in XP Research

The progress in nucleotide excision repair research could be traced in the journey of cells--from donor, to clinician, to repository, to researcher, and into the literature. The journey began with a sample from a patient with xeroderma pigmentosum (XP), taken by skin biopsy by National Institutes of Health scientists from a young United States man in 1972. The disease provides a good model for understanding the mechanisms behind nucleotide excision repair: Patients with XP have mutations in bo

Paul Smaglik

The progress in nucleotide excision repair research could be traced in the journey of cells--from donor, to clinician, to repository, to researcher, and into the literature.

The journey began with a sample from a patient with xeroderma pigmentosum (XP), taken by skin biopsy by National Institutes of Health scientists from a young United States man in 1972. The disease provides a good model for understanding the mechanisms behind nucleotide excision repair: Patients with XP have mutations in both copies of one of seven genes, rendering many of the patients' DNA repair mechanisms inoperable. XP patients can't fix damage caused by ultraviolet light and, consequently, are up to 1,000 times more susceptible to skin cancer than is the U.S. population in general. The cells were deposited at the Coriell Institute for Medical Research, in Camden, N.J., founded in 1953 by Lewis Coriell. "At that time, the cell repository was just...

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