935_run2
Homo sapiens
Protocols: Female patient was diagnosed with microcephaly and developmental delay at the Department of Medical Genetics, University Hospital Brno, in 2015. Patient's biological material (peripheral blood) was obtained after the signing the informed consent form (by her parents) following the requirments of The Czech Society of Medical Genetics and Genomics of the Czech Medical Association of J. E. Purkyne. Genomic DNA was extracted from the lymphocytes of the peripheral blood using the MagNaPure system (Roche Ltd, Basel, Swiss) according to manufacturers protocol. Extracted gDNA was diluted in TE buffer and stored in -20C. SureSelectXT Target Enrichment System for Illumina Paired-End Multiplexed Sequencing Library (Agilent Technologies, Santa Clara, CA, USA)
ENA-FIRST-PUBLIC
2018-12-30T17:01:53Z
ENA-LAST-UPDATE
2018-07-20T16:03:57Z
External Id
SAMEA4799971
INSDC center name
Institute of Experimental Biology, Faculty of Science, Masaryk University
INSDC first public
2018-12-30T17:01:53Z
INSDC last update
2018-07-20T16:03:57Z
INSDC status
public
Submitter Id
E-MTAB-7026:935_run2
broker name
ArrayExpress
cell type
lymphocyte
common name
human
developmental stage
infant
disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability
organism part
blood
sample name
E-MTAB-7026:935_run2
scientific_name
Homo sapiens
sex
female