organism: Homo sapiens
description: Fanconi anemia mosaic individual
attributes.tag: isolate
attributes.value: 21-3837 (patient II-2 in paper "Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event"
attributes.tag: age
attributes.value: 33 years
attributes.tag: biomaterial_provider
attributes.value: Unitdi Genetica Medica, AOU Citt della Salute e della Scienza di Torino, Italy
attributes.tag: collection_date
attributes.value: 2021
attributes.tag: geo_loc_name
attributes.value: Italy:Torino
attributes.tag: sex
attributes.value: male
attributes.tag: tissue
attributes.value: Blood
attributes.tag: cell_line
attributes.value: PBMC
attributes.tag: disease
attributes.value: DOID:13636
attributes.tag: disease_stage
attributes.value: Complete absence of haematological anomalies (since 15 years of age), presence of FA clinical signs (polydactyly, renal agenesis, growth delay, infertility)
attributes.tag: ethnicity
attributes.value: Caucasian
attributes.tag: karyotype
attributes.value: 46, XY
attributes.tag: sample_type
attributes.value: PBMC
attributes.tag: treatment
attributes.value: None
attributes.tag: BioSampleModel
attributes.value: Human