title: 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: BioTalentum Ltd., Gödöllő, Hungary.
authors: Eszter
authors: E
authors: Varga
authors: BioTalentum Ltd., Gödöllő, Hungary.
authors: Csilla
authors: C
authors: Nemes
authors: BioTalentum Ltd., Gödöllő, Hungary.
authors: Zsuzsanna
authors: Z
authors: Táncos
authors: BioTalentum Ltd., Gödöllő, Hungary.
authors: István
authors: I
authors: Bock
authors: Pharmacology and Drug Safety Research, Gedeon Richter Plc., Budapest, Hungary.
authors: Sára
authors: S
authors: Berzsenyi
authors: Pharmacology and Drug Safety Research, Gedeon Richter Plc., Budapest, Hungary.
authors: György
authors: G
authors: Lévay
authors: Pharmacology and Drug Safety Research, Gedeon Richter Plc., Budapest, Hungary.
authors: Viktor
authors: V
authors: Román
authors: BioTalentum Ltd., Gödöllő, Hungary.
authors: Julianna
authors: J
authors: Kobolák
authors: BioTalentum Ltd., Gödöllő, Hungary; Molecular Animal Biotechnology Laboratory, Szent István University, Gödöllő, Hungary. Electronic address: andras.dinnyes@biotalentum.hu.
authors: András
authors: A
authors: Dinnyés
mesh_terms: D001321:Autistic Disorder / Q000150:complications / Q000235:genetics / Q000473:pathology*; D001483:Base Sequence; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D002648:Child; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics / Q000473:pathology*; D058732:Embryoid Bodies / Q000166:cytology / Q000378:metabolism; D005260:Female; D005822:Genetic Vectors / Q000235:genetics / Q000378:metabolism; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics / Q000473:pathology*; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics*; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics / Q000473:pathology*; D059785:Karyotype; D007963:Leukocytes, Mononuclear / Q000166:cytology; D008856:Microscopy, Fluorescence; D020641:Polymorphism, Single Nucleotide; D029082:Sendai virus; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D014157:Transcription Factors; C455847:EHMT1 protein, human; D011495:Histone-Lysine N-Methyltransferase