ID   RsNF
AC   CVCL_D4AA
DR   Wikidata; Q127384073
RX   PubMed=37938540;
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:7765; NF1; Simple; p.Arg2258Ter (c.6772C>T) (p.Arg2237Ter, c.6709C>T) (R2237*); ClinVar=VCV000230389; Zygosity=Unspecified (PubMed=37938540).
CC   Sequence variation: Mutation; HGNC; HGNC:17101; SUZ12; Simple; p.Ser539fs (c.1616_1619del); Zygosity=Unspecified (PubMed=37938540).
CC   Omics: Genomics; Whole exome sequencing.
CC   Derived from site: In situ; Right thigh, skin; UBERON=UBERON_0004262.
ST   Source(s): PubMed=37938540
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D12S391: 17,21
ST   D13S317: 11
ST   D16S539: 9
ST   D18S51: 13
ST   D19S433: 13
ST   D21S11: 28,32.2
ST   D2S1338: 18,25
ST   D2S441: 11,14
ST   D3S1358: 16
ST   D5S818: 11,12
ST   D6S1043: 12,14
ST   D7S820: 11,13
ST   D8S1179: 13,15
ST   FGA: 23,24
ST   Penta D: 14
ST   Penta E: 15,16
ST   TH01: 8
ST   TPOX: 8,11
ST   vWA: 16,18
DI   NCIt; C3798; Malignant peripheral nerve sheath tumor
DI   NCIt; C3273; Neurofibromatosis type 1
DI   ORDO; Orphanet_3148; Malignant peripheral nerve sheath tumor
DI   ORDO; Orphanet_636; Neurofibromatosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   23Y
CA   Cancer cell line
DT   Created: 30-01-24; Last updated: 10-04-25; Version: 4
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RX   PubMed=37938540; DOI=10.1007/s13577-023-01000-7;
RA   Zhang X.-N., Hu C.-H., Li D.-Z., Liu S.;
RT   "Establishment and characterization of a recurrent malignant
RT   peripheral nerve sheath tumor cell line: RsNF.";
RL   Hum. Cell 37:345-355(2024).
//