title: Patient 1 (III-4)
organism: Homo sapiens
attributes.tag: source_name
attributes.value: Patient, cultured primary skin fibroblast
attributes.tag: cell type
attributes.value: cultured primary skin fibroblast
attributes.tag: individual
attributes.value: Patient 1 (III-4)
attributes.tag: genotype/variation
attributes.value: INTS8 (c.2917_2925del / c.893A>G)