SAMN40209424
External Id
NINDS
INSDC center name
2025-03-01T00:53:14.400Z
INSDC first public
2025-03-01T00:53:14.400Z
INSDC last update
SRS20624678
INSDC secondary accession
live
INSDC status
Human
NCBI submission model
Human.1.0
NCBI submission package
SRS20624678
SRA accession
NA
age
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 9000 Rockville Pike, Bethesda, Maryland, 20892
biomaterial_provider
NA
cell_line
NA
cell_subtype
NA
cell_type
NA
collection_date
NA
culture_collection
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.
description
NA
dev_stage
hypercontractile muscle disease
disease
NA
disease_stage
NA
ethnicity
NA
geo_loc_name
NA
health_state
S70
isolate
NA
karyotype
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
NA
phenotype
NA
population
NA
race
tissue biopsy
sample_type
NA
sex
skeletal muscle
tissue
S70
title
NA
treatment