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Cellosaurus CMGANTi006-A (CVCL_D0D5)

[Text version]
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; 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
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)

Cross-references
Cell line databases/resources hPSCreg; CMGANTi006-A
Biological sample resources BioSamples; SAMEA112249023
Encyclopedic resources Wikidata; Q123030951
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2