| Remarks |
Clinically affected; Symptoms onset at birth; Diagnosed within first year of life; Pregnancy unremarkable except for decreased fetal movement compared to mother's previous pregnancies; Symptoms include: respiratory insufficiency, motor delay, hypotonia, spinomuscular atrophy, transient tachypnea, anemia, oxygen dependent at night and while sick, perinatal hepatitis B exposure, diminished reflexes and absent gag reflex; Muscle biopsy showed skeletal muscle with features of centronuclear/myotubular myopathy (congenital) with increased central nuclei; congenital myotonic dystrophy; DNA sequencing panel revealed several variants of unknown significance, but the cause of the phenotype remains unknown: one dominantly inherited, heterozygous MYH7 mutation c.3337-3dup, three heterozygous mutations in the RYR1 gene c.1186_1187delinsTC, c.1001G>T (p.Gly334Val), and c.7487C>G (p.Pro2496Arg), as well as one heterozygous mutation in TTN gene c.9338G>A (p.Arg3113His); Treatments: tracheostomy, g-tube, ventilator, takes palivizumab 100 mg/ml injection every 30 days; See GM26131 for unaffected mother and GM26132 for unaffected father. 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 |