characteristics.text: SAMN32907719
characteristics.characteristic: External Id
characteristics.text: Central South University
characteristics.characteristic: INSDC center name
characteristics.text: 2024-02-29T00:50:32.557Z
characteristics.characteristic: INSDC first public
characteristics.text: 2024-02-29T00:50:32.557Z
characteristics.characteristic: INSDC last update
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: ERS18381809
characteristics.characteristic: SRA accession
characteristics.text: 35
characteristics.characteristic: age
characteristics.text: Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics & Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, China
characteristics.characteristic: biomaterial_provider
characteristics.text: Sequencing of exon 33 to 34 of INTS1 gene in the patient's mother. c.4704G>A was proved to cause a skipping of 75 bases of exon 34 in the INTS1 gene
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: blood
characteristics.characteristic: tissue
characteristics.text: Human sample from Homo sapiens
characteristics.characteristic: title