organism: Homo sapiens
attributes.tag: isolate
attributes.value: NM_000151.4:c.247C>T (p.Arg83Cys, R83C), homo
attributes.tag: age
attributes.value: 6
attributes.tag: biomaterial_provider
attributes.value: Research Centre for Medical Genetics, 115478, Russian Federation, Moscow, Moskvorechye str.,4
attributes.tag: collection_date
attributes.value: 2023
attributes.tag: geo_loc_name
attributes.value: Russia
attributes.tag: sex
attributes.value: female
attributes.tag: tissue
attributes.value: iPSCs
attributes.tag: cell_line
attributes.value: P17L16
attributes.tag: dev_stage
attributes.value: Day 0
attributes.tag: disease
attributes.value: OMIM #232200
attributes.tag: BioSampleModel
attributes.value: Human