Phenotypic Overviews - Extended Clinical Documentation
For several disorders in the Human Genetic Cell Repository, there is extensive clinical documentation. In some cases the data have been collected in collaboration with patient sponsored efforts and in other cases it has been submitted by research investigators when they submitted the samples. In order to display the extensive data, Coriell has designed spreadsheets displaying the Repository reference number, cell type, family and member number, reference numbers for other available family members, age at diagnosis, age at time of specimen sampling, and mutation or cytogenetic data, when available.
The spreadsheets allow users to view the Repository's holdings for a particular diagnosis in a comprehensive fashion in contrast to individually viewing remarks for each cell line. Each spreadsheet is available for download to allow the user to view the full catalog description for samples of interest.
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