One of the challenges facing researchers studying rare diseases is the lack of reagents, assays, and models. We are developing a list of resources known in the literature. Know of something else that should be here?
Cell lines
- Patient derived fibroblast and B-lymphocyte cell lines at Coriell
- BLM-knockout cell lines KSVS1452 (BLMKO) and KSVS1454 (BLMKO/+)
- Various patient samples are held at the Bloom syndrome registry
iPSCs and hPSCs
- The BSA received a grant to create three induced pluripotent stem cell (iPSC) lines. Once they are created and placed at research labs, we will update the information here.
- REGUi004-A made from a woman with the specific BLM mutation c.2116del
- iPSC line made from patient with 631delCAA mutation
- Blm-/- made from knockout of H9 hESC