organism: Homo sapiens
attributes.tag: isolate
attributes.value: NM_000404.4(GLB1):c.808 T > G (p.Tyr270Asp), NM_022124.6 (CDH23) c.6992 T > C (p.Val2331Ala), NM_022124.6 (CDH23) c.805C > T (p.Arg269Trp)
attributes.tag: age
attributes.value: 11
attributes.tag: biomaterial_provider
attributes.value: Research Centre for Medical Genetics, 115478, Russian Federation, Moscow, Moskvorechye str.,15
attributes.tag: collection_date
attributes.value: 2023
attributes.tag: geo_loc_name
attributes.value: Russia
attributes.tag: sex
attributes.value: male
attributes.tag: tissue
attributes.value: LB (liver buds, hepatoblast)
attributes.tag: cell_line
attributes.value: P10L1
attributes.tag: dev_stage
attributes.value: Day 9
attributes.tag: disease
attributes.value: OMIM #253010
attributes.tag: BioSampleModel
attributes.value: Human