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.

Contact PAF at [email protected] or 1-877-720-2192 for a kit.