characteristics.text: ERC000011
characteristics.characteristic: ENA-CHECKLIST
characteristics.text: 2023-07-20T00:19:31Z
characteristics.characteristic: ENA-FIRST-PUBLIC
characteristics.text: 2023-07-20T00:19:31Z
characteristics.characteristic: ENA-LAST-UPDATE
characteristics.text: SAMEA113542842
characteristics.characteristic: External Id
characteristics.text: Mario Negri Institute for Pharmacological Research (IRCCS)
characteristics.characteristic: INSDC center name
characteristics.text: 2023-07-20T00:19:31Z
characteristics.characteristic: INSDC first public
characteristics.text: 2023-07-20T00:19:31Z
characteristics.characteristic: INSDC last update
characteristics.text: public
characteristics.characteristic: INSDC status
characteristics.text: ERS15539259
characteristics.characteristic: SRA accession
characteristics.text: E-MTAB-12989:Patient_8min_S17
characteristics.characteristic: Submitter Id
characteristics.text: ArrayExpress
characteristics.characteristic: broker name
characteristics.text: induced pluripotent stem cell
characteristics.characteristic: cell_type
characteristics.text: human
characteristics.characteristic: common name
characteristics.text: Protocols: Peripheral Blood Mononuclear cells (PBMCs), freshly prepared from the patient blood sample, were reprogrammed using CytoTune-iPS2.1 Sendai Reprogramming Kit (Invitrogen). Briefly, 5x105 PBMCs were used for reprogramming and more than 20 iPSC-like cell colonies were grown after 3 weeks of culture. Out of these cell colonies, several symmetric and non-differentiated colonies were isolated and further expanded. Stemness of the isolated clones was confirmed in situ using Anti-TRA-1-60-Vio488 antibody (Miltenyi). Patient-derived iPSC lines are grown on Geltrex (Gibco)-coated plates in Essential 8 medium (Gibco). Following each passage, differentiated cells were eliminated under microscope, and stemness of the maintained cells were constantly monitored with immune-fluorescent analysis with anti-TRA-1-60-Vio488 and other stem cell specific antibodies. Genomic DNA of iPSCs was extracted using DNeasy Blood and Tissue kits (Qiagen). DNA library was prepared using TruSeq PCR-Free Kit (Illumina, San Diego, CA) according to the manufactural protocol.
characteristics.characteristic: description
characteristics.text: adult
characteristics.characteristic: developmental stage
characteristics.text: Cornelia de Lange syndrome
characteristics.characteristic: disease
characteristics.text: heterozygous missense point-mutation of the NIPBL
characteristics.characteristic: genetic modification
characteristics.text: Homo sapiens
characteristics.characteristic: organism
characteristics.text: Homo sapiens
characteristics.characteristic: organism
characteristics.text: blood
characteristics.characteristic: organism part
characteristics.text: mononuclear cell
characteristics.characteristic: progenitor cell type
characteristics.text: Homo sapiens
characteristics.characteristic: scientific_name
characteristics.text: female
characteristics.characteristic: sex
characteristics.text: Patient_8min_S17
characteristics.characteristic: title