SAMN03140714
External Id
dbGaP
INSDC center name
2014-10-24T00:20:42.810Z
INSDC first public
2024-04-22T06:21:26.693Z
INSDC last update
SRS2870681
INSDC secondary accession
live
INSDC status
Generic
NCBI submission model
Generic.1.0
NCBI submission package
SRS2870681
SRA accession
DNA
analyte type
CIDR_Joubert_Syndrome
biospecimen repository
S77
biospecimen repository sample id
Blood
http://purl.obolibrary.org/obo/UBERON_0000178
body site
phs000382
gap_accession
1
gap_consent_code
ARU
gap_consent_short_name
1422547
gap_sample_id
1090091
gap_subject_id
Blood
http://purl.obolibrary.org/obo/UBERON_0000178
histological type
No
is tumor
SNP Genotypes (NGS)
molecular data type
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
male
http://purl.obolibrary.org/obo/PATO_0000384
sex
Prospective Longitudinal Cohort
study design
Joubert syndrome 1
http://www.orpha.net/ORDO/Orphanet_475
study disease
CIDR Whole Exome Sequencing in Joubert Syndrome
study name
Yes
subject is affected
S77
submitted sample id
77
submitted subject id
CIDR_Joubert_Syndrome
submitter handle
Non-tumor DNA sample from Blood of a human male participant in the dbGaP study CIDR Whole Exome Sequencing in Joubert Syndrome
title