Cellosaurus cell line BIOT-0708-EHMT1 (CVCL

Cross-references
Cell line name	BIOT-0708-EHMT1
Accession	CVCL_IJ19
Resource Identification Initiative	To cite this cell line use: BIOT-0708-EHMT1 (RRID:CVCL_IJ19)
Comments	From: BioTalentum, Ltd; Godollo; Hungary. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:24650; EHMT1; Simple; p.Trp1138Ter (c.3413G>A); ClinVar=VCV000221980; Zygosity=Heterozygous (PubMed=27789404).
Disease	Kleefstra syndrome (NCIt: C129976) Kleefstra syndrome (ORDO: Orphanet_261494)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	11Y
Category	Induced pluripotent stem cell
Publications	PubMed=27789404; DOI=10.1016/j.scr.2016.09.031 Varga E., Nemes C., Tancos Z., Bock I., Berzsenyi S., Levay G., Roman V., Kobolak J., Dinnyes A. 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 Res. 17:531-533(2016)
Encyclopedic resources	Wikidata; Q54796887
Entry history
Entry creation	01-Dec-2016
Last entry update	19-Dec-2024
Version number	12