title: Whole blood of the father of the N. family (II-1)
organism: Homo sapiens
description: Father of the N. family (II-1) had de novo slice-site mutation in RPS7 gene: c.-19+1(G>T). Although it was reported that mutations in ribosomal protein genes are causal for Diamond-Blackfan anemia, this individual had no symptoms of anemia. He had a low normal hemoglobin level (120 g/l) with slightly elevated MCV (98 fL).
attributes.tag: isolate
attributes.value: Family N. father
attributes.tag: age
attributes.value: 45
attributes.tag: biomaterial_provider
attributes.value: Natalya S. Smetanina, nataliya.smetanina@fccho-moscow.ru
attributes.tag: sex
attributes.value: male
attributes.tag: tissue
attributes.value: whole blood
attributes.tag: health_state
attributes.value: healty
attributes.tag: BioSampleModel
attributes.value: Human