Cellosaurus cell line CMGANTi004-A (CVCL

Cross-references
Cell line name	CMGANTi004-A
Synonyms	SEMD2
Accession	CVCL_C1SX
Resource Identification Initiative	To cite this cell line use: CMGANTi004-A (RRID:CVCL_C1SX)
Comments	From: Center of Medical Genetics Antwerp; Antwerp; Belgium. Population: Caucasian; Italian. Omics: Variations; SNP array analysis. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:1044; BGN; Simple; p.Gly259Val (c.776G>T); ClinVar=VCV000243091; Zygosity=Hemizygous (PubMed=36640472).
Disease	X-linked spondyloepimetaphyseal dysplasia (NCIt: C188996) X-linked spondyloepimetaphyseal dysplasia (ORDO: Orphanet_93349)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	50Y
Category	Induced pluripotent stem cell
Publications	PubMed=36640472; DOI=10.1016/j.scr.2023.103024; PMCID=PMC9972783 Pauline De Kinderen, Silke Peeters, Laura Rabaut, Geert Mortier, Peter Ponsaerts, Bart Leo Loeys, Aline Verstraeten, Josephina A.N. Meester; IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type). Stem Cell Res. 67:103024-103024(2023)
Cell line databases/resources	hPSCreg; CMGANTi004-A
Biological sample resources	BioSamples; SAMEA14370027
Encyclopedic resources	Wikidata; Q114310969
Entry history
Entry creation	22-Sep-2022
Last entry update	10-Apr-2025
Version number	6