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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; 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
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)

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 update19-Dec-2024
Version number3