home > biosample > SAMN00789545
identifier SAMN00789545
type biosample
sameAs
sra-sample　 SRS292619
organism 9606
attributes
gap_accession　 phs000288
submitter handle　 NHGRI_Ciliopathies_Exome
biospecimen repository　 NHGRI_Ciliopathies_Exome
study name　 Ciliopathies Exome Sequencing Initiative
study design　 Case-Control
biospecimen repository sample id　 NDD-1364-5-1
submitted sample id　 NDD-1364-5-1
submitted subject id　 NDD-1364-5-1
gap_sample_id　 677310
gap_subject_id　 550087
sex　 male
study disease　 Congenital Abnormalities
body site　 whole blood
histological type　 whole blood
analyte type　 DNA
is tumor　 No
subject is affected　 Yes
molecular data type　 SNP/CNV Genotypes (NGS)
gap_consent_code　 1
gap_consent_short_name　 GRU
properties　▽ 
{...}
dbXrefs
bioproject　 PRJNA74825
sra-run　 SRR420359
sra-submission　 SRA050307
sra-study　 SRP003277
sra-sample　 SRS292619
sra-experiment　 SRX123744
distribution JSONJSON-LD
Download
biosample_set.xml.gz　 HTTPS FTP
status public
visibility controlled-access
dateCreated 2012-02-14T12:21:55Z
dateModified 2021-08-27T18:44:34Z
datePublished 2012-03-29T23:01:44Z