ID   BIOT-0708-EHMT1
AC   CVCL_IJ19
DR   Wikidata; Q54796887
RX   PubMed=27789404;
CC   From: BioTalentum, Ltd; Godollo; Hungary.
CC   Sequence variation: Mutation; HGNC; HGNC:24650; EHMT1; Simple; p.Trp1138Ter (c.3413G>A); ClinVar=VCV000221980; Zygosity=Heterozygous (PubMed=27789404).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129976; Kleefstra syndrome
DI   ORDO; Orphanet_261494; Kleefstra syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
//
RX   PubMed=27789404; DOI=10.1016/j.scr.2016.09.031;
RA   Varga E., Nemes C., Tancos Z., Bock I., Berzsenyi S., Levay G.,
RA   Roman V., Kobolak J., Dinnyes A.;
RT   "Establishment of EHMT1 mutant induced pluripotent stem cell (iPSC)
RT   line from a 11-year-old Kleefstra syndrome (KS) patient with autism
RT   and normal intellectual performance.";
RL   Stem Cell Res. 17:531-533(2016).
//