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: 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 De Kinderen P., Peeters S., Rabaut L., Mortier G., Ponsaerts P., Loeys B.L., Verstraeten A., Meester J.A.N. 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	19-Dec-2024
Version number	5