AssayGeneralClass: BAO:0002805 cell proliferation assay

AssayMaterialUsed: CLO:0037317 mouse embryonic stem cell line

AssayDescription: Stable expression of wild type and variant PALB2 cDNA constructs in Trp53 and Palb2-null mouse cell line containing DR-GFP reporter; exposure to cisplatin for 48 h induces interstrand-crosslink DNA damage; cell survival is measured by FACS 24 h after cisplatin washout

AssayReadOutDescription: Relative resistance to cisplatin represented as cell survival relative to wild type, which was set to 100%

AssayRange: %

AssayNormalRange: Cisplatin resistance levels comparable to that of cells expressing wild type PALB2; no numeric threshold given

AssayAbnormalRange: Cisplatin resistance levels comparable to that of cells expressing empty vector; no numeric threshold given

AssayIndeterminateRange: Not reported

ValidationControlPathogenic: 2

ValidationControlBenign: 2

Replication: 2 independent experiments

StatisticalAnalysisDescription: Not reported

AssayGeneralClass: BAO:0002805 cell proliferation assay

AssayMaterialUsed: CLO:0037317 mouse embryonic stem cell line

AssayDescription: Stable expression of wild type and variant PALB2 cDNA constructs in Trp53 and Palb2-null mouse cell line containing DR-GFP reporter; exposure to PARP inhibitor Olaparib for 48 h inhibits end-joining mediated by PARP and sensitizes cells to DNA damage; cell survival is measured by FACS 24 h after Olaparib washout

AssayReadOutDescription: Relative resistance to PARPi represented as cell survival relative to wild type, which was set to 100%

AssayRange: %

AssayNormalRange: PARPi resistance levels comparable to that of cells expressing wild type PALB2; no numeric threshold given

AssayAbnormalRange: PARPi resistance levels ≤30% of wild type

AssayIndeterminateRange: Not reported

ValidationControlPathogenic: 12

ValidationControlBenign: 9

Replication: 2 independent experiments

StatisticalAnalysisDescription: Not reported