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