SAMN37310254
External Id
San Paul Institute for Biomedical Research
INSDC center name
2023-09-07T00:00:00Z
INSDC first public
2023-09-07T06:06:23.297Z
INSDC last update
SRS18824329
INSDC secondary accession
live
INSDC status
Human
NCBI submission model
Human.1.0
NCBI submission package
SRS18824329
SRA accession
7 years
age
Pediatric Hematology-OncologyARNAS Ospedale Civico, Palermo, Italy
biomaterial_provider
2018-12
collection_date
Fanconi anemia individual
description
DOID:13636
disease
Mild somatic phenotype, mild hematological involvement (slow decline of the hematopoietic function)
disease_stage
Caucasian
ethnicity
Italy:Palermo
geo_loc_name
17-1152 (P1 in paper "A self-repair history:compensatory effect of a de novovariant on the FANCAc.2778+83C>G splicing mutation")
isolate
46, XY
karyotype
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
male
sex
Bone marrow
tissue
Human sample from Homo sapiens
title
None
treatment