title: RNU+extended exome of HG001 (NA12878)
description: Extended whole exome data of HG001 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: HG001_RNU-ExtendedWES
attributes.tag: age
attributes.value: missing
attributes.tag: biomaterial_provider
attributes.value: Coriell Institute
attributes.tag: cell_line
attributes.value: HG001 (NA12878)
attributes.tag: cell_type
attributes.value: Lymphoblastoid cell line
attributes.tag: collection_date
attributes.value: missing: control sample
attributes.tag: ethnicity
attributes.value: Utah/Mormon
attributes.tag: geo_loc_name
attributes.value: USA
attributes.tag: isolate
attributes.value: HG001 (NA12878)
attributes.tag: sex
attributes.value: female
attributes.tag: tissue
attributes.value: Blood
attributes.tag: BioSampleModel
attributes.value: Human