Retinoblastoma cell lines

Laura Steenpass

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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.