ID   UKERe008-A-4
AC   CVCL_C7FL
DR   BioSamples; SAMEA111502283
DR   hPSCreg; UKERe008-A-4
DR   Wikidata; Q117704919
RX   PubMed=36610307;
CC   From: Universitatsklinikum Erlangen (UKER); Erlangen; Germany.
CC   Sequence variation: Mutation; HGNC; 2494; CTBP1; Simple_edited; p.Arg331Trp (c.991C>T); ClinVar=VCV000225758; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36610307).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C192635; Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9773 ! WA09
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=36610307; DOI=10.1016/j.scr.2022.103012;
RA   Akdas E.Y., Turan S., Guhathakurta D., Ekici A., Salar S., Lie D.C.-C.,
RA   Winner B., Fejtova A.;
RT   "CRISPR/Cas9-mediated generation of hESC lines with homozygote and
RT   heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome.";
RL   Stem Cell Res. 67:103012-103012(2023).
//