ID   876135-273-R-J3-PDC
AC   CVCL_F4DI
DR   NCI-PDMR; 8847
CC   Part of: NCI Patient-Derived Model Repository.
CC   Population: Caucasian; Utah residents with ancestry from Northern and Western Europe.
CC   Characteristics: tumorigenic in NOD/SCID/IL2RgammaNULL (NSG) mice.
CC   Characteristics: Established from a patient-derived xenograft (PDX) in NOD/SCID/IL2RgammaNULL (NSG) mice.
CC   Doubling time: 52 hours (NCI-PDMR=8847).
CC   HLA typing: A*02:01,03:01; B*07:02,13:02; C*06:02,07:02 (NCI-PDMR=8847).
CC   Microsatellite instability: Stable (MSS) (NCI-PDMR=8847).
CC   Sequence variation: Mutation; HGNC; HGNC:20473; BRIP1; Simple; c.3749_*12del; Zygosity=Heterozygous; Note=Likely Oncogenic, variant allele frequency: 0.2632 (NCI-PDMR=8847).
CC   Sequence variation: Mutation; HGNC; HGNC:1787; CDKN2A; Simple; p.R80* (c.238C>T); Zygosity=Homozygous; Note=Likely Oncogenic, variant allele frequency: 1 (NCI-PDMR=8847).
CC   Sequence variation: Mutation; HGNC; HGNC:7067; CIITA; Simple; p.Q555* (c.1663C>T); Zygosity=Heterozygous; Note=Likely Oncogenic, variant allele frequency: 0.4685 (NCI-PDMR=8847).
CC   Sequence variation: Mutation; HGNC; HGNC:7652; NBN; Simple; p.K219Nfs*16 (c.657_661del); Zygosity=Unspecified; Note=Likely Oncogenic, variant allele frequency: 0.1429 (NCI-PDMR=8847).
CC   Sequence variation: Mutation; HGNC; HGNC:7765; NF1; Simple; p.R1362* (c.4083_4084delinsCT); Zygosity=Homozygous; Note=Likely Oncogenic, variant allele frequency: 1 (NCI-PDMR=8847).
CC   Sequence variation: Mutation; HGNC; HGNC:7989; NRAS; Simple; p.G13D (c.38G>A); Zygosity=Heterozygous; Note=Oncogenic, variant allele frequency: 0.4786 (NCI-PDMR=8847).
CC   Omics: Genomics; Whole exome sequencing.
CC   Omics: Transcriptomics; RNAseq.
CC   Derived from site: Metastatic; Left axillary lymph node; UBERON=UBERON_0001097.
ST   Source(s): NCI-PDMR=8847
ST   Amelogenin: X
ST   CSF1PO: 13
ST   D13S317: 10,11
ST   D16S539: 11,13
ST   D18S51: 11,18
ST   D19S433: 14,15.2
ST   D21S11: 29,30
ST   D2S1338: 18,24
ST   D3S1358: 18
ST   D5S818: 11,12
ST   D7S820: 9,11
ST   D8S1179: 12,13
ST   FGA: 21,25
ST   TH01: 8,9.3
ST   TPOX: 8
ST   vWA: 15,17
DI   NCIt; C3224; Melanoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   67Y
CA   Cancer cell line
DT   Created: 25-06-26; Last updated: 25-06-26; Version: 1
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