Resources for Researchers
Resources available for researchers. Please contact us at information@pitthopkins.org with questions.
Coriell
The NIGMS Repository is a research biobank. They collect samples from individuals with genetic diseases and make cell lines and DNA for scientists to use in their studies. They do not conduct research at Coriell, but do provide the materials for scientists to perform research on a variety of genetic diseases.
Contact for Questions
NIGMS Repository Team
Coriell Institute for Medical Research
403 Haddon Avenue
Camden, NJ 08103
856-536-3170 in the United States
856-757-4848 from other countries
Mouse Models
Available models from the Philpot Lab at UNC.
- Tcf4 R579W mouse line
- Δ574-579 mouse line
- Tcf4 Lox-P2A-GFP-STOP-lox conditional reinstatement mice
- Tcf4-NLuc reporter mice
- Humanized Tcf4-EGFP/NLuc reporter mice
- Humanized Tcf4-EGFP/NLuc reporter fibroblast lines
Contact for Questions
Dr. Ben Philpot
bphilpot@med.unc.edu
Registry Data
The PHRF has partnered with CoRDS to provide a registry for Pitt Hopkins syndrome. With over 300 registered members providing their medical history, we have a great resource for researchers to get an overall better picture of Pitt Hopkins syndrome as well as look at specific phenotype data.