organism: Homo sapiens
description: Fanconi anemia individual
attributes.tag: isolate
attributes.value: 17-1152 (P1 in paper "A self-repair history:compensatory effect of a de novovariant on the FANCAc.2778+83C>G splicing mutation")
attributes.tag: age
attributes.value: 7 years
attributes.tag: biomaterial_provider
attributes.value: Pediatric Hematology-OncologyARNAS Ospedale Civico, Palermo, Italy
attributes.tag: collection_date
attributes.value: 2018-12
attributes.tag: geo_loc_name
attributes.value: Italy:Palermo
attributes.tag: sex
attributes.value: male
attributes.tag: tissue
attributes.value: Bone marrow
attributes.tag: disease
attributes.value: DOID:13636
attributes.tag: disease_stage
attributes.value: Mild somatic phenotype, mild hematological involvement (slow decline of the hematopoietic function)
attributes.tag: ethnicity
attributes.value: Caucasian
attributes.tag: karyotype
attributes.value: 46, XY
attributes.tag: treatment
attributes.value: None
attributes.tag: BioSampleModel
attributes.value: Human