characteristics.text: SAMN34240171
characteristics.characteristic: External Id
characteristics.text: Second Affiliated Hospital of Zhejiang University School of Medicine
characteristics.characteristic: INSDC center name
characteristics.text: 2023-04-24T00:00:00Z
characteristics.characteristic: INSDC first public
characteristics.text: 2023-04-25T11:41:45.467Z
characteristics.characteristic: INSDC last update
characteristics.text: SRS17417497
characteristics.characteristic: INSDC secondary accession
characteristics.text: live
characteristics.characteristic: INSDC status
characteristics.text: Human
characteristics.characteristic: NCBI submission model
characteristics.text: Human.1.0
characteristics.characteristic: NCBI submission package
characteristics.text: SRS17417497
characteristics.characteristic: SRA accession
characteristics.text: 5-year-old
characteristics.characteristic: age
characteristics.text: Xiaoping Lin, Department of Cardiology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310009, China
characteristics.characteristic: biomaterial_provider
characteristics.text: A heterozygous missense variant(c.1663C>T) was detected and a large deletion covering chr11:2868992 to 2870321 region, leading to the complete loss of exon 16, in KCNQ1 was detected in this JLNS patient.
characteristics.characteristic: description
characteristics.text: Jervell and Lange-Nielsen syndrome
characteristics.characteristic: disease
characteristics.text: C3
characteristics.characteristic: isolate
characteristics.text: Homo sapiens
characteristics.ontologyTerms: http://purl.obolibrary.org/obo/NCBITaxon_9606
characteristics.characteristic: organism
characteristics.text: female
characteristics.characteristic: sex
characteristics.text: peripheral blood
characteristics.characteristic: tissue
characteristics.text: Human sample from KCNQ1 gene
characteristics.characteristic: title