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DM1-2 hiPS cell line
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Catalogue Number 157739
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 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).

References

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References: 1 entry

Mondragon-Gonzalez et al. 2018. Dis Model Mech. 11(7):. PMID: 29898953.


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References: 1 entry

Mondragon-Gonzalez et al. 2018. Dis Model Mech. 11(7):. PMID: 29898953.


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