SAMN02927944
External Id
dbGaP
INSDC center name
2014-07-19T00:26:54.180Z
INSDC first public
2024-05-05T12:26:18.693Z
INSDC last update
SRS666378
INSDC secondary accession
live
INSDC status
Generic
NCBI submission model
Generic.1.0
NCBI submission package
SRS666378
SRA accession
DNA
analyte type
NICHD MCCD
biospecimen repository
SAA20
biospecimen repository sample id
Skin
http://purl.obolibrary.org/obo/UBERON_0000014
body site
phs000776
gap_accession
1
gap_consent_code
DS-MCCD-IRB-NPU
gap_consent_short_name
1327411
gap_sample_id
1031149
gap_subject_id
Fibroblast
http://purl.obolibrary.org/obo/CL_0000057
histological type
No
is tumor
SNP Genotypes (NGS)
molecular data type
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
female
http://purl.obolibrary.org/obo/PATO_0000383
sex
Case-Control
study design
Consanguinity and Rare Mutations Outside of MCCC Genes Underlie Non-Specific Phenotypes of MCC Deficiency
study name
No
subject is affected
SAA20
submitted sample id
SUA20
submitted subject id
NICHD MCCD
submitter handle
Non-tumor DNA sample from Skin of a human female participant in the dbGaP study Consanguinity and Rare Mutations Outside of MCCC Genes Underlie Non-Specific Phenotypes of MCC Deficiency
title