• Gene amplification; HGNC; HGNC:11118; SMN2; Extensive; Zygosity=Unspecified; Note=5 copies (from parent cell line).
  
• Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Heterozygous (from parent cell line).
  

PubMed=25740845; DOI=10.1093/hmg/ddv080; PMCID=PMC4424959
Mattis V.B., Tom C., Akimov S., Saeedian J., Ostergaard M.E., Southwell A.L., Doty C.N., Ornelas L., Sahabian A., Lenaeus L., Mandefro B., Sareen D., Arjomand J., Hayden M.R., Ross C.A., Svendsen C.N.
HD iPSC-derived neural progenitors accumulate in culture and are susceptible to BDNF withdrawal due to glutamate toxicity.
Hum. Mol. Genet. 24:3257-3271(2015)

PubMed=28526555; DOI=10.1016/j.stem.2017.04.002; PMCID=PMC6659720
Vatine G.D., Al-Ahmad A., Barriga B.K., Svendsen S., Salim A., Garcia L., Garcia V.J., Ho R., Yucer N., Qian T.-C., Lim R.G., Wu J., Thompson L.M., Spivia W.R., Chen Z.-H., Van Eyk J.E., Palecek S.P., Refetoff S., Shusta E.V., Svendsen C.N.
Modeling psychomotor retardation using iPSCs from MCT8-deficient patients indicates a prominent role for the blood-brain barrier.
Cell Stem Cell 20:831-843.e5(2017)