ID   WAe025-A-1
AC   CVCL_D0PJ
SY   WA25-CHD4c.3008A/A (C3); ULIEGEe026-A-1
DR   hPSCreg; WAe025-A-1
DR   Wikidata; Q123033868
RX   PubMed=37445725;
CC   From: University of Lieges; Lieges; Belgium.
CC   Sequence variation: Mutation; HGNC; 1919; CHD4; Simple_edited; p.Gly1003Asp (c.3008G>A); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=37445725).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C201595; Sifrim-Hitz-Weiss syndrome
DI   ORDO; Orphanet_653712; CHD4-related neurodevelopmental disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_E080 ! WA25
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37445725; DOI=10.3390/ijms241310543;
RA   Chohra I., Giri S., Malgrange B.;
RT   "Generation of a well-characterized homozygous
RT   chromodomain-helicase-DNA-binding protein 4(G1003D) mutant hESC line
RT   using CRISPR/eCas9 (ULIEGEe001-A-1).";
RL   Int. J. Mol. Sci. 24:10543.1-10543.11(2023).
//