| Catalogue Number | 157738 |
| Antigen/Gene or Protein Targets | myotonic dystrophy protein kinase (DMPK) |
| Parental Line | skin fibroblasts from a diagnosed DM1 patient |
| Synonyms | Myotonic dystrophy 1 (DM-1) |
| Host | Human |
| Disease Keywords | muscular dystrophy |
| Model | Stem Cells |
| Relevance | Myotonic dystrophy is a genetic disease characterized by a loss of muscle function. Myotonic dystrophy type 1 (DM1), the most common form of myotonia, is caused by mutations in the DMPK gene. Currently, there is no cure or treatment for DM1. |
| Production Details | To generate a cell-based model for DM1, researchers obtained a sample of skin fibroblasts from two diagnosed DM1 patients. These fibroblasts (DM1-1 and DM1-2) were reprogrammed to hiPS cells via the Sendai virus method. |
| Research Area | Cell Signaling & Signal Transduction, Drug Discovery & Development |
| Notes | 4 total cell lines are available: 2 undifferentiated hiPSC lines from two DM1 patients (DM1-1 hiPS cell line, DM1-2 hiPS cell line) and 2 differentiated skeletal muscle cell lines (DM1-1 iPAX7-hiPS cell line and DM1-2 iPAX7-hiPS cell line). |
Invented by Rita Perlingeiro Kyba at The University of Minnesota, Twin Cities
