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.

Abstract	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 verified by the expression of pluripotency-associated markers and by in vitro spontaneous differentiation towards the 3 germ layers. Furthermore, the iPSC line showed normal karyotype. Our model might offer a good platform to study the pathomechanism of Kleefstra syndrome, also for drug testing, early biomarker discovery and gene therapy studies.
Authors	Eszter Varga, Csilla Nemes, Zsuzsanna Táncos, István Bock, Sára Berzsenyi, György Lévay, Viktor Román, Julianna Kobolák, András Dinnyés
Journal	Stem cell research (Stem Cell Res) Vol. 17 Issue 3 Pg. 531-533 (11 2016) ISSN: 1876-7753 [Electronic] England
PMID	27789404 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Copyright	Copyright © 2016 Michael Boutros, German Cancer Research Center, Heidelberg, Germany. Published by Elsevier B.V. All rights reserved.
Chemical References	Transcription Factors EHMT1 protein, human Histone-Lysine N-Methyltransferase
Topics	Autistic Disorder (complications, genetics, pathology) Base Sequence Cell Differentiation Cell Line Cellular Reprogramming Child Chromosome Deletion Chromosomes, Human, Pair 9 (genetics) Craniofacial Abnormalities (complications, genetics, pathology) Embryoid Bodies (cytology, metabolism) Female Genetic Vectors (genetics, metabolism) Heart Defects, Congenital (complications, genetics, pathology) Histone-Lysine N-Methyltransferase (genetics) Humans Induced Pluripotent Stem Cells (cytology, metabolism) Intellectual Disability (complications, genetics, pathology) Karyotype Leukocytes, Mononuclear (cytology) Microscopy, Fluorescence Polymorphism, Single Nucleotide Sendai virus Sequence Analysis, DNA Transcription Factors (genetics, metabolism)

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