Phenotypic Overviews

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.

Disease Number of unique subjects Number of affected subjects Number with clinical information Number with mutations or cytogenetic characterization Number of unique mutations Clinical Spreadsheet 18q- deletion syndrome 44 43 40 44 na   Adrenoleukodystrophy - Adrenoleukodystrophy/Adrenomyeloneuropathy - Autosomal Neonatal Form - Pseudoneonatal Form 15 8 5 11 8 4 11 8 4 1 0 0 1 0 0 Bloom Syndrome 19 19 19 19 13 Duchenne/Becker muscular dystrophy 51 35 27 17 12 Familial dysautonomia 85 32 23 17 1 Fanconi Anemia 25 24 20 5 5 Friedreich ataxia 50 26 26 37 have repeat data na Gaucher disease Type I Gaucher disease Type II Gaucher disease Type III 9 6 5 9 4 2 9 4 2 9 6 1 6 4 2 Glycogen storage disease II 27 21 21 12 13 MCAD 11 10 10 9 1 Niemann-Pick disease, type C (Type 1) Niemann-Pick disease, type C (Type 2) 19 1 19 1 9 0 16 1 18 1 Osteogenesis Imperfecta Type IV 45 28 45 28 3 Rett syndrome 34 24 24 19 12 Williams-Beuren Syndrome 54 46 34 43 have deletions na