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 Pauline De Kinderen, Laura Rabaut, Melanie H.A.M. Perik, Silke Peeters, Peter Ponsaerts, Bart Leo Loeys, Geert Mortier, Josephina A.N. Meester, Aline Verstraeten; 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