Homo sapiens
Fanconi anemia individual
isolate
17-1152 (P1 in paper "A self-repair history:compensatory effect of a de novovariant on the FANCAc.2778+83C>G splicing mutation")
age
6 years
biomaterial_provider
Pediatric Hematology-OncologyARNAS Ospedale Civico, Palermo, Italy
collection_date
2017-09
geo_loc_name
Italy:Palermo
sex
male
tissue
Blood
cell_line
PBMC
disease
DOID:13636
disease_stage
Mild somatic phenotype, mild hematological involvement (slow decline of the hematopoietic function)
ethnicity
Caucasian
karyotype
46, XY
sample_type
PBMC
treatment
None
BioSampleModel
Human