characteristics.text: ERC000011
characteristics.characteristic: ENA-CHECKLIST
characteristics.text: 2018-02-01T17:03:27Z
characteristics.characteristic: ENA-FIRST-PUBLIC
characteristics.text: 2017-09-11T12:01:55Z
characteristics.characteristic: ENA-LAST-UPDATE
characteristics.text: SAMEA104289184
characteristics.characteristic: External Id
characteristics.text: Peking University First Hospital
characteristics.characteristic: INSDC center name
characteristics.text: 2018-02-01T17:03:27Z
characteristics.characteristic: INSDC first public
characteristics.text: 2017-09-11T12:01:55Z
characteristics.characteristic: INSDC last update
characteristics.text: public
characteristics.characteristic: INSDC status
characteristics.text: ERS1914162
characteristics.characteristic: SRA accession
characteristics.text: E-MTAB-6054:P088
characteristics.characteristic: Submitter Id
characteristics.text: 13
characteristics.unit: month
characteristics.characteristic: age
characteristics.text: ArrayExpress
characteristics.ontologyTerms: http://www.ebi.ac.uk/efo/EFO_0009737
characteristics.characteristic: broker name
characteristics.text: human
characteristics.ontologyTerms: http://purl.obolibrary.org/obo/NCBITaxon_9606
characteristics.characteristic: common name
characteristics.text: Protocols: Peripheral venous blood was collected from both patients and their families. Buffy coats of nucleated cells obtained from anticoagulated blood (ACD or EDTA) were resuspended in 15 ml polypropylene centrifugation tubes with 3 ml of nuclei lysis buffer (10 mM Tris-HCl, 400 mM NaCl and 2 mM Na2EDTA, pH 8.2). The cell lysates were digested overnight at 37°C with 0.2 ml of 10% SDS and 0.5 ml of a protease K solution (1 mg protease K in 1% SDS and 2 mM Na2EDTA). After digestion was complete, 1 ml of saturated NaCl (approximately 6M) was added to each tube and shaken vigorously for 15 seconds, followed by centrifugation at 2500 rpm for 15 minutes. The precipitated protein pellet was left at the bottom of the tube and the supernatant containing the DNA was transferred to another 15 ml polypropylene tube. Exactly 2 volumes of room temperature absolute ethanol was added and the tubes inverted several times until the DNA precipitated. The precipitated DNA strands were removed with a plastic spatula or pipette and transferred to a 1.5 ml microcentrifuge tube containing 100-200 pl TE buffer (10 mM Tris-HCl, 0.2 mM Na2EDTA, pH 7.5). The DNA was allowed to dissolve 2 hours at 37°C before quantitating. AmpliSeqTM ibrary was prepared following the modifiedIon AmpliSeqTM Library Preparation protocol (Pub No. MAN0006735).
characteristics.characteristic: description
characteristics.text: Hypomyelinating leukodystrophy
characteristics.characteristic: disease
characteristics.text: Homo sapiens
characteristics.characteristic: organism
characteristics.text: Homo sapiens
characteristics.ontologyTerms: http://purl.obolibrary.org/obo/NCBITaxon_9606
characteristics.characteristic: organism
characteristics.text: blood
characteristics.characteristic: organism part
characteristics.text: Homo sapiens
characteristics.characteristic: scientific_name
characteristics.text: male
characteristics.ontologyTerms: http://purl.obolibrary.org/obo/PATO_0000384
characteristics.characteristic: sex
characteristics.text: P088
characteristics.characteristic: title