ID   hTERT NF1 ipnNF09.4
AC   CVCL_UI73
SY   ipnNF09.4
DR   ABM; T0195
DR   Wikidata; Q94305854
RX   PubMed=27617404;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7765; NF1; Simple; p.Leu1153Thrfs*42 (c.3456dupA) (3456_3457insA); ClinVar=VCV000656975; 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_UI71 ! hTERT NF1 ipNF05.5
OI   CVCL_UI72 ! hTERT NF1 ipNF05.5 (Mixed clones)
SX   Male
AG   22Y
CA   Telomerase immortalized cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 12
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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).
//