title: Standard extended exome of HG002 (NA24385)
organism: Homo sapiens
description: Extended whole exome data of HG002 generated using Twist Exome 2.0 plus Comprehensive Spike-in probes, supplemented with custom capture probes targeting the intronic regions of Japanese insurance-listed 188 genes and ACMG Secondary Finding (SF v3.2) 81 genes, 70 regions associated with repeat expansion disorders, and mitochondrial DNA.
attributes.tag: sample_name
attributes.value: HG002_ExtendedWES
attributes.tag: age
attributes.value: 45
attributes.tag: biomaterial_provider
attributes.value: Coriell Institute
attributes.tag: cell_line
attributes.value: HG002 (NA24385)
attributes.tag: cell_type
attributes.value: Lymphoblastoid cell line
attributes.tag: collection_date
attributes.value: 2025-09-10
attributes.tag: ethnicity
attributes.value: Ashkenazi Jewish (White)
attributes.tag: geo_loc_name
attributes.value: USA
attributes.tag: isolate
attributes.value: HG002 (NA24385)
attributes.tag: sex
attributes.value: male
attributes.tag: tissue
attributes.value: Blood
attributes.tag: BioSampleModel
attributes.value: Human