Article
Establishment of EHMT1 mutant induced pluripotent stem cell (iPSC) line from a 11-year-old Kleefstra syndrome (KS) patient with autism and normal intellectual performance.
Stem cell research - 1 Nov 2016
Varga Eszter, Nemes Csilla, Táncos Zsuzsanna, Bock István, Berzsenyi Sára, Lévay György, Román Viktor, Kobolák Julianna, Dinnyés András
Abstract excerpt
Peripheral blood was collected from a clinically characterized female Kleefstra syndrome patient with a heterozygous, de novo, premature termination codon (PTC) mutation (NM_024757.4(EHMT1):c.3413G>A; p.Trp1138Ter). Peripheral blood mononuclear cells (PBMCs) were reprogrammed with the human OSKM transcription factors using the Sendai-virus (SeV) delivery system. The pluripotency of transgene-free iPSC line was...
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