ID   HSJD-DIPG-014b
AC   CVCL_C1N3
SY   Hospital Sant Joan de Deu-Diffuse Intrinsic Pontine Glioma-008
DR   cancercelllines; CVCL_C1N3
DR   Wikidata; Q114311666
RX   PubMed=31439867;
CC   Sequence variation: Mutation; HGNC; HGNC:4764; H3-3A; Simple; p.Lys28Met (c.83A>T) (H3.3K27M); ClinVar=VCV000376435; Zygosity=Unspecified (PubMed=31439867).
CC   Sequence variation: Mutation; HGNC; HGNC:9277; PPM1D; Simple; p.Leu484Phefs*5 (c.1451dup); ClinVar=VCV000871469; Zygosity=Unspecified (PubMed=31439867).
CC   Derived from site: In situ; Brainstem, pons; UBERON=UBERON_0000988.
DI   NCIt; C94764; Diffuse intrinsic pontine glioma
DI   ORDO; Orphanet_497188; Diffuse intrinsic pontine glioma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Cancer cell line
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 6
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RX   PubMed=31439867; DOI=10.1038/s41467-019-11732-6; PMCID=PMC6706443;
RA   Fons N.R., Sundaram R.K., Breuer G.A., Peng S., McLean R.L.,
RA   Kalathil A.N., Schmidt M.S., Carvalho D.M., Mackay A., Jones C.,
RA   Carcaboso A.M., Nazarian J., Berens M.E., Brenner C., Bindra R.S.;
RT   "PPM1D mutations silence NAPRT gene expression and confer NAMPT
RT   inhibitor sensitivity in glioma.";
RL   Nat. Commun. 10:3790.1-3790.10(2019).
//