title: RNU+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, as well as 50 official RNU regions recognized by HGNC.
attributes.tag: sample_name
attributes.value: HG002_RNU-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