| Remarks |
Clinically affected; diagnosed via muscle biopsy at 3 years of age; examination at 3 years of age revealed hypotonia and absence of deep tendon reflexes - CK, EMG, and MRI of brain and cervical spine were normal; fatigues after walking for a long time and has trouble going up stairs; muscle biopsy revealed that muscle is almost entirely composed of type 1 myofibers, and they exhibit central unstained cores - suggesting congenital myopathy morphologically consistent with central core disease; mother is GM26164 and father is GM26165 (affected status for both parents is unknown). Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |