ID   BCH-RB51
AC   CVCL_B7L6
SY   Birmingham Children's Hospital-Retinoblastoma 51
DR   CancerTools; 160612
DR   Wikidata; Q112929313
DR   Ximbio; 160612
WW   Info; -; -; 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; p.Gln685Ter (c.2053C>T); ClinVar=VCV000237668; Zygosity=Heterozygous (CHECT).
CC   Sequence variation: Mutation; HGNC; HGNC:9884; RB1; Simple; c.2520+1G>C; ClinVar=VCV003237106; Note=Splice donor mutation; Zygosity=Mosaic (CHECT).
DI   NCIt; C8714; Unilateral retinoblastoma
DI   ORDO; Orphanet_790; Retinoblastoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y3M
CA   Cancer cell line
DT   Created: 23-06-22; Last updated: 10-04-25; Version: 5
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