ID   BCH-RB52
AC   CVCL_B7L7
SY   Birmingham Children's Hospital-Retinoblastoma 52
DR   CancerTools; 160615
DR   Wikidata; Q112929314
DR   Ximbio; 160615
WW   https://chect.org.uk/wp-content/uploads/2022/01/McConville_Final-Report-Tables-Figures_final.pdf
CC   Sequence variation: Mutation; HGNC; HGNC:9884; RB1; Simple; c.380+1G>A; ClinVar=VCV000428727; Note=Splice donor mutation; Zygosity=Heterozygous (CHECT).
CC   Sequence variation: Mutation; HGNC; HGNC:9884; RB1; Simple; p.Arg787Ter (c.2359C>T); ClinVar=VCV000013073; Zygosity=Heterozygous (CHECT).
DI   NCIt; C8714; Unilateral retinoblastoma
DI   ORDO; Orphanet_790; Retinoblastoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5M
CA   Cancer cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 4
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