Retinoblastoma panel

9 cell lines for retinoblastoma studies

The RNA-seq data from 9 retinoblastoma cell lines (ArrayExpress) allow expression analysis for single genes (bar chart) or for sets of genes (bar chart, heat map).

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Retinoblastoma cell lines

Laura Steenpass


Retinoblastoma is a tumor of the neural retina occurring in children under the age of five. Retinoblastoma is caused by biallelic inactivation of the tumor suppressor gene RB1 on human chromosome 13. About 60% of cases are sporadic with mostly one tumor in one eye, whereas 40% of cases are hereditary with several tumors in both eyes.

The retinoblastoma cell line panel currently consists of nine cell lines, extensively characterized by MS-MLPA, single exon sequencing, RNA sequencing and next-generation amplicon bisulfite sequencing of the promoter region CpG106 and the imprint control region CpG85 in intron 2 of RB1. The panel provides cell lines with different modes of RB1 inactivation, either by hypermethylation of the RB1 promoter, nonsense and splice site mutations, gene deletions combinde with loss of heterozygosity events. This allows to study diverse aspects of retinoblastoma tumour development.

Cell line Laterality of tumour Age at diagnosis (months) RB1 mutation allele 1 / allele 2
RBL7 bilateral 16 unknown
RBL13 unilateral 18 hypermethylation / Q62*
RBL14 unilateral 23 hypermethylation / LOH
RBL15 bilateral 11 R320*/ L797*
RBL18 unilateral 15 M484Vfs*8 / LOH
RBL20 bilateral 16 IVS6+1G>T / LOH
RBL30 unilateral 30 R251* / LOH
Y-79 unilateral 12 Del / Del
WERI-RB1 unilateral 30 Del ex2-ex6 / IVS20+1G>A