Cellosaurus cell line HEBHMUi018-A (CVCL

Cross-references
Cell line name	HEBHMUi018-A
Synonyms	HCHB-018
Accession	CVCL_E4DB
Resource Identification Initiative	To cite this cell line use: HEBHMUi018-A (RRID:CVCL_E4DB)
Comments	From: Hebei Medical University; Shijiazhuang; China. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:132; ACTB; Simple; p.Ser199Arg (c.597C>G); ClinVar=VCV000279938; Zygosity=Heterozygous (PubMed=39437565).
Disease	Nicolaides-Baraitser syndrome (NCIt: C205644) Nicolaides-Baraitser syndrome (ORDO: Orphanet_3051)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	4Y
Category	Induced pluripotent stem cell
Publications	PubMed=39437565; DOI=10.1016/j.scr.2024.103577 Hou X.-L., Wang Z.-X., Guo R.-Y., Zhou Z.-J., Zhang J., Li Y., Akogo H.Y., Ma J.-J., Chen W.-Q., Sun D.-L., Ma J., Guo Q., Cui H.-X. Derivation of induced pluripotent stem cell from a Baraitser-Winter cerebrofrontofacial syndrome with ACTB mutation. Stem Cell Res. 81:103577-103577(2024)
Cell line databases/resources	hPSCreg; HEBHMUi018-A
Biological sample resources	BioSamples; SAMEA115793210
Entry history
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1