ID   hTERT NF1 ipNF95.11b C/T
AC   CVCL_UI68
SY   ipNF95.11b C/T; ipNF95.11bC_T
DR   Wikidata; Q94305844
RX   PubMed=27617404;
RX   PubMed=29055717;
CC   Sequence variation: Gene deletion; HGNC; HGNC:7765; NF1; Zygosity=Heterozygous; Note=Somatic LOH (PubMed=27617404).
CC   Sequence variation: Mutation; HGNC; HGNC:7765; NF1; Simple; p.Thr586Valfs*18 (c.1756_1759delACTA) (1756delACTA); ClinVar=VCV000186215; Zygosity=Heterozygous; Note=Germline (PubMed=27617404).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=MGI; MGI:88357; Cdk4.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Derived from site: In situ; Peripheral nervous system, nerve; UBERON=UBERON_0001021.
CC   Cell type: Schwann cell; CL=CL_0002573.
DI   NCIt; C3273; Neurofibromatosis type 1
DI   ORDO; Orphanet_636; Neurofibromatosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UI67 ! hTERT NF1 ipNF95.11b C
OI   CVCL_UI69 ! hTERT NF1 ipnNF95.11c
SX   Male
AG   19Y
CA   Telomerase immortalized cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 11
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RX   PubMed=27617404; DOI=10.1038/labinvest.2016.88;
RA   Li H., Chang L.-J., Neubauer D.R., Muir D.F. 4th, Wallace M.R.;
RT   "Immortalization of human normal and NF1 neurofibroma Schwann cells.";
RL   Lab. Invest. 96:1105-1115(2016).
//
RX   PubMed=29055717; DOI=10.1016/j.expneurol.2017.10.012; PMCID=PMC6863155;
RA   Kraniak J.M., Chalasani A., Wallace M.R., Mattingly R.R.;
RT   "Development of 3D culture models of plexiform neurofibroma and
RT   initial application for phenotypic characterization and drug
RT   screening.";
RL   Exp. Neurol. 299:289-298(2018).
//