ID   hTERT NF1 ipNF06.2A
AC   CVCL_UI74
SY   ipNF06.2A
DR   ABM; T0191
DR   Wikidata; Q94305834
RX   PubMed=27617404;
RX   PubMed=29893754;
CC   Sequence variation: Mutation; HGNC; HGNC:7765; NF1; Simple; p.Gly848Trp (c.2542G>T); 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)
SX   Female
AG   60-70Y
CA   Telomerase immortalized cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
//
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=29893754; DOI=10.1038/sdata.2018.106; PMCID=PMC5996849;
RA   Ferrer M., Gosline S.J.C., Stathis M., Zhang X.-H., Guo X.-D., Guha R.,
RA   Ryman D.A., Wallace M.R., Kasch-Semenza L., Hao H.-P., Ingersoll R.G.,
RA   Mohr D., Thomas C.J., Verma S., Guinney J.H., Blakeley J.O.;
RT   "Pharmacological and genomic profiling of neurofibromatosis type 1
RT   plexiform neurofibroma-derived Schwann cells.";
RL   Sci. Data 5:180106-180106(2018).
//