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Functional Characterization of Endogenously Expressed Human RYR1 Variants
Journal JoVE
Médecine
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Journal JoVE Médecine
Functional Characterization of Endogenously Expressed Human RYR1 Variants
DOI:

07:59 min

June 09, 2021

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Chapitres

  • 00:04Introduction
  • 01:00Intracellular Cell Culture Ca2+ Measurement
  • 02:30Intracellular Single Cell Ca2+ Measurement
  • 03:56Human Myotube Preparation
  • 04:40Human Myotube Inducible Calcium ([Ca2+]i) Measurement
  • 05:33Results: Representative Single Cell Ca2+ Release in EBV-Immortalized Human B Cells and Isolated Human Myotubes
  • 07:11Conclusion

Summary

Traduction automatique

Here methods used to study the functional effect of RYR1 mutations endogenously expressed in Epstein Barr Virus immortalized human B-lymphocytes and muscle biopsy derived satellite cells differentiated into myotubes are described.

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