ID   BCH-RB38
AC   CVCL_B7KT
SY   Birmingham Children's Hospital-Retinoblastoma 38
DR   CancerTools; 160613
DR   Wikidata; Q112929300
DR   Ximbio; 160613
WW   https://chect.org.uk/wp-content/uploads/2022/01/McConville_Final-Report-Tables-Figures_final.pdf
CC   Sequence variation: Mutation; HGNC; HGNC:20893; BCOR; Simple; p.Leu775Ter (c.2324T>A); Zygosity=Unspecified (CHECT).
CC   Sequence variation: Gene deletion; HGNC; HGNC:9884; RB1; Zygosity=Heterozygous (CHECT).
CC   Sequence variation: Mutation; HGNC; HGNC:9884; RB1; Simple; c.1961-1G>T; ClinVar=VCV000930927; Zygosity=Heterozygous; Note=Splice acceptor mutation (CHECT).
CC   Omics: Transcriptome analysis by RNAseq.
DI   NCIt; C8714; Unilateral retinoblastoma
DI   ORDO; Orphanet_790; Retinoblastoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y3M
CA   Cancer cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 4
//