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Cellosaurus CMGANTi003-A (CVCL_C1SW)

[Text version]
Cell line name CMGANTi003-A
Synonyms SEMD1
Accession CVCL_C1SW
Resource Identification Initiative To cite this cell line use: CMGANTi003-A (RRID:CVCL_C1SW)
Comments From: Center of Medical Genetics Antwerp; Antwerp; Belgium.
Population: Caucasian; Italian.
Omics: SNP array analysis.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
Disease X-linked spondyloepimetaphyseal dysplasia (NCIt: C188996)
X-linked spondyloepimetaphyseal dysplasia (ORDO: Orphanet_93349)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 52Y
Category Induced pluripotent stem cell
Publications

PubMed=36640472; DOI=10.1016/j.scr.2023.103024; PMCID=PMC9972783
De Kinderen P., Peeters S., Rabaut L., Mortier G., Ponsaerts P., Loeys B.L., Verstraeten A., Meester J.A.N.
IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type).
Stem Cell Res. 67:103024-103024(2023)

Cross-references
Cell line databases/resources hPSCreg; CMGANTi003-A
Biological sample resources BioSamples; SAMEA14369850
Encyclopedic resources Wikidata; Q114310968
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4