SAMN37310255
External Id
San Paul Institute for Biomedical Research
INSDC center name
2023-09-07T00:00:00Z
INSDC first public
2023-09-07T06:06:23.750Z
INSDC last update
SRS18824330
INSDC secondary accession
live
INSDC status
Human
NCBI submission model
Human.1.0
NCBI submission package
SRS18824330
SRA accession
33 years
age
Unitdi Genetica Medica, AOU Citt della Salute e della Scienza di Torino, Italy
biomaterial_provider
PBMC
cell_line
2021
collection_date
Fanconi anemia mosaic individual
description
DOID:13636
disease
Complete absence of haematological anomalies (since 15 years of age), presence of FA clinical signs (polydactyly, renal agenesis, growth delay, infertility)
disease_stage
Caucasian
ethnicity
Italy:Torino
geo_loc_name
21-3837 (patient II-2 in paper "Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event"
isolate
46, XY
karyotype
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
PBMC
sample_type
male
sex
Blood
tissue
Human sample from Homo sapiens
title
None
treatment