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Cellosaurus CMGANTi007-A (CVCL_D0D6)

[Text version]
Cell line name CMGANTi007-A
Synonyms SEDC2
Accession CVCL_D0D6
Resource Identification Initiative To cite this cell line use: CMGANTi007-A (RRID:CVCL_D0D6)
Comments From: Center of Medical Genetics Antwerp; Antwerp; Belgium.
Population: Caucasian; Belgian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2200; COL2A1; Simple; p.Gly408Asp (c.1223G>A); 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 13Y
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)

Cross-references
Cell line databases/resources hPSCreg; CMGANTi007-A
Biological sample resources BioSamples; SAMEA112320817
Encyclopedic resources Wikidata; Q123030952
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2