PAF and Coriell Collaborative Project to Further Research on PA
Samples are available in the Coriell catalog with phenotype data. There is still time to participate.
There are currently 52 subjects available in the Coriell online catalog. They have shipped 92 cell cultures and 50 DNA samples to researchers.
Samples generously donated through the Propionic Acidemia Foundation to the NIGMS Human Genetic Cell Repository at Coriell have been used by 9 institutions in 3 different countries. Researchers have been studying the disease mechanism, characterizing the genes and mutations, and developing genetic tests. – updated June 2018
The repository can receive blood or fibroblast lines made from skin biopsies.
- Information on Collaboration
- Information on Coriell Institute for Research
- Propionic Acidemia Questionnaire (English) (Spanish PDF)
- So you have decided to donate your child’s blood to the NIGMS Repository at Coriell-kit instructions
- Coriell presented a poster at the 2008 SIMD Conference.
- Consent form is available in English and Spanish.
Contact PAF at paf@pafoundation.com or 1-877-720-2192 for a kit.