Cellosaurus cell line CMGANTi006-A (CVCL

Cross-references
Cell line name	CMGANTi006-A
Synonyms	SEDC1
Accession	CVCL_D0D5
Resource Identification Initiative	To cite this cell line use: CMGANTi006-A (RRID:CVCL_D0D5)
Comments	From: Center of Medical Genetics Antwerp; Antwerp; Belgium. Population: Caucasian; Polish. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:2200; COL2A1; Simple; p.Gly1107Arg (c.3319G>A); ClinVar=VCV001067590; Zygosity=Heterozygous (PubMed=36966641).
Disease	Spondyloperipheral dysplasia (NCIt: C135088) Spondyloperipheral dysplasia-short ulna syndrome (ORDO: Orphanet_1856)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	3Y
Category	Induced pluripotent stem cell
Publications	PubMed=36966641; DOI=10.1016/j.scr.2023.103080; PMCID=PMC10240565 De Kinderen P., Rabaut L., Perik M.H.A.M., Peeters S., Ponsaerts P., Loeys B.L., Mortier G., Meester J.A.N., Verstraeten A. IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC). Stem Cell Res. 69:103080-103080(2023)
Cell line databases/resources	hPSCreg; CMGANTi006-A
Biological sample resources	BioSamples; SAMEA112249023
Encyclopedic resources	Wikidata; Q123030951
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3