• Mutation; HGNC; HGNC:7773; NF2; Simple; c.1575-1G>A; ClinVar=VCV001285395; Zygosity=Unspecified; Note=Splice acceptor mutation (PubMed=11836557).
  

PubMed=11836557; DOI=10.3892/ijo.20.3.475
Gene Hung, Xian-Kui Li, Rodolfo Faudoa, Zhu Xeu, Lan Kluwe, Johng Sik Rhim, William Slattery, David J. Lim;
Establishment and characterization of a schwannoma cell line from a patient with neurofibromatosis 2.
Int. J. Oncol. 20:475-482(2002)

CLPUB00805
Ali Andalibi;
Establish an in vitro model for the study of NF2 gene function and gene therapy.
(In misc. document) Report for award DAMD17-99-1-9491. Defense Technical Information Center document ADA431978; pp.1-52; DTIC; Fort Belvoir; USA (2004)

PubMed=17304235; DOI=10.1038/sj.cgt.7701037
Shilpa Prabhakar, Shanta M. Messerli, Anat O. Stemmer-Rachamimov, Ta-Chiang Liu, Samuel David Rabkin, Robert Lawrence Martuza, Xandra Owens Breakefield;
Treatment of implantable NF2 schwannoma tumor models with oncolytic herpes simplex virus G47Delta.
Cancer Gene Ther. 14:460-467(2007)

PubMed=17868749; DOI=10.1016/j.mrfmmm.2007.07.015; PMCID=PMC2233940
Pierig Lepont, John T. Stickney, Lauren A. Foster, Jin-Jun Meng, Robert F. Hennigan, Wallace Ip;
Point mutation in the NF2 gene of HEI-193 human schwannoma cells results in the expression of a merlin isoform with attenuated growth suppressive activity.
Mutat. Res. 637:142-151(2008)

PubMed=28469964; PMCID=PMC5411799
Jian-Man Guo, Michael R. Grovola, Hong Xie, Grace E. Coggins, Patrick Duggan, Rukhsana Hasan, Jia-Le Huang, Danny W. Lin, Claire Song, Gabriela M. Witek, Simon Berritt ...Show all 13 authors... , David C. Schultz, Jeffrey Field; Show fewer authors
Comprehensive pharmacological profiling of neurofibromatosis cell lines.
Am. J. Cancer Res. 7:923-934(2017)