Cellosaurus cell line WAe025-A-1 (CVCL

Cross-references
Cell line name	WAe025-A-1
Synonyms	WA25-CHD4c.3008A/A (C3); ULIEGEe026-A-1
Accession	CVCL_D0PJ
Resource Identification Initiative	To cite this cell line use: WAe025-A-1 (RRID:CVCL_D0PJ)
Comments	From: University of Lieges; Lieges; Belgium. Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358. Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations	Mutation; HGNC; HGNC:1919; CHD4; Simple_edited; p.Gly1003Asp (c.3008G>A); Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=37445725).
Disease	Sifrim-Hitz-Weiss syndrome (NCIt: C201595) CHD4-related neurodevelopmental disorder (ORDO: Orphanet_653712)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_E080 (WA25)
Sex of cell	Female
Age at sampling	Blastocyst stage
Category	Embryonic stem cell
Publications	PubMed=37445725; DOI=10.3390/ijms241310543; PMCID=PMC10342000 Ilyas Chohra, Subhajit Giri, Brigitte Malgrange; Generation of a well-characterized homozygous chromodomain-helicase-DNA-binding protein 4(G1003D) mutant hESC line using CRISPR/eCas9 (ULIEGEe001-A-1). Int. J. Mol. Sci. 24:10543.1-10543.11(2023)
Cell line databases/resources	hPSCreg; WAe025-A-1
Encyclopedic resources	Wikidata; Q123033868
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3