characteristics.text: SAMN34240170
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: 2023-04-25T11:41:43.630Z
characteristics.characteristic: INSDC last update
characteristics.text: SRS17417495
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: SRS17417495
characteristics.characteristic: SRA accession
characteristics.text: 20-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.605-2A>G) and a frame-shift variant(c.1265del (p.Lys422fs)) in KCNQ1 were detected in the JLNS patient.
characteristics.characteristic: description
characteristics.text: Jervell and Lange-Nielsen syndrome
characteristics.characteristic: disease
characteristics.text: C2
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