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Cellosaurus IBKMOLi003-A (CVCL_D1G5)

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Cell line name IBKMOLi003-A
Synonyms vEDS COL3A1 Q105* iPSC
Accession CVCL_D1G5
Resource Identification Initiative To cite this cell line use: IBKMOLi003-A (RRID:CVCL_D1G5)
Comments From: Institute for Molecular Biology, University of Innsbruck; Innsbruck; Austria.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gln105Ter; Zygosity=Heterozygous (PubMed=38301384).
Disease Ehlers-Danlos syndrome, type IV (NCIt: C125699)
Vascular Ehlers-Danlos syndrome (ORDO: Orphanet_286)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 64Y
Category Induced pluripotent stem cell
Publications

PubMed=38301384; DOI=10.1016/j.scr.2024.103321
Sabrina Hopperger, Angeliki Spathopoulou, Lukas Mayer-Suess, Marta Suarez-Cubero, Katharina Sillaber, Ana Spreiz, Stefan Kiechl, Frank Edenhofer, Lisa Fellner;
Generation of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene.
Stem Cell Res. 75:103321-103321(2024)

Cross-references
Cell line databases/resources hPSCreg; IBKMOLi003-A
Biological sample resources BioSamples; SAMEA114409263
Encyclopedic resources Wikidata; Q127382084
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number4