organism: Homo sapiens
attributes.tag: gap_accession
attributes.value: phs000776
attributes.tag: submitter handle
attributes.value: NICHD MCCD
attributes.tag: biospecimen repository
attributes.value: NICHD MCCD
attributes.tag: study name
attributes.value: Consanguinity and Rare Mutations Outside of MCCC Genes Underlie Non-Specific Phenotypes of MCC Deficiency
attributes.tag: study design
attributes.value: Case-Control
attributes.tag: biospecimen repository sample id
attributes.value: SAS25
attributes.tag: submitted sample id
attributes.value: SAS25
attributes.tag: submitted subject id
attributes.value: SUS25
attributes.tag: gap_sample_id
attributes.value: 1327428
attributes.tag: gap_subject_id
attributes.value: 1031166
attributes.tag: sex
attributes.value: female
attributes.tag: study disease
attributes.value: Urea Cycle Disorders, Inborn
attributes.tag: body site
attributes.value: Skin
attributes.tag: histological type
attributes.value: Fibroblast
attributes.tag: analyte type
attributes.value: DNA
attributes.tag: is tumor
attributes.value: No
attributes.tag: subject is affected
attributes.value: Yes
attributes.tag: molecular data type
attributes.value: SNP Genotypes (NGS)
attributes.tag: gap_consent_code
attributes.value: 1
attributes.tag: gap_consent_short_name
attributes.value: DS-MCCD-IRB-NPU