title: S70
organism: Homo sapiens
description: For S70, allelic skewing is observed for the gene TNNI1. Specifcally, ~96% of the RNA transcribed for TNNI1 is observed to have a maternal variant (c.41G>A; p.R14H) located in exon 4 compared to ~4% of RNA that have a paternal inherited 7bp extension at the 5 end of exon 6. This extension results in in the introduction of the c.190-9G>A variant rendering a premature stop codon and nonsense mediated decay of the paternal allele.
attributes.tag: isolate
attributes.value: S70
attributes.tag: age
attributes.value: NA
attributes.tag: biomaterial_provider
attributes.value: Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 9000 Rockville Pike, Bethesda, Maryland, 20892
attributes.tag: collection_date
attributes.value: NA
attributes.tag: geo_loc_name
attributes.value: NA
attributes.tag: sex
attributes.value: NA
attributes.tag: tissue
attributes.value: skeletal muscle
attributes.tag: cell_line
attributes.value: NA
attributes.tag: cell_subtype
attributes.value: NA
attributes.tag: cell_type
attributes.value: NA
attributes.tag: culture_collection
attributes.value: NA
attributes.tag: dev_stage
attributes.value: NA
attributes.tag: disease
attributes.value: hypercontractile muscle disease
attributes.tag: disease_stage
attributes.value: NA
attributes.tag: ethnicity
attributes.value: NA
attributes.tag: health_state
attributes.value: NA
attributes.tag: karyotype
attributes.value: NA
attributes.tag: phenotype
attributes.value: NA
attributes.tag: population
attributes.value: NA
attributes.tag: race
attributes.value: NA
attributes.tag: sample_type
attributes.value: tissue biopsy
attributes.tag: treatment
attributes.value: NA
attributes.tag: BioSampleModel
attributes.value: Human