ID   IBKMOLi003-A
AC   CVCL_D1G5
SY   vEDS COL3A1 Q105* iPSC
DR   BioSamples; SAMEA114409263
DR   hPSCreg; IBKMOLi003-A
DR   Wikidata; Q127382084
RX   PubMed=38301384;
CC   From: Institute for Molecular Biology, University of Innsbruck; Innsbruck; Austria.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2201; COL3A1; Simple; p.Gln105Ter; Zygosity=Heterozygous (PubMed=38301384).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125699; Ehlers-Danlos syndrome, type IV
DI   ORDO; Orphanet_286; Vascular Ehlers-Danlos syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   64Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 10-09-24; Version: 3
//
RX   PubMed=38301384; DOI=10.1016/j.scr.2024.103321;
RA   Hopperger S., Spathopoulou A., Mayer-Suess L., Suarez-Cubero M.,
RA   Sillaber K., Spreiz A., Kiechl S., Edenhofer F., Fellner L.;
RT   "Generation of the human induced pluripotent stem cell line
RT   (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS)
RT   patient carrying the heterozygous nonsense mutation c.430C > T
RT   (p.Q105*) in the COL3A1 gene.";
RL   Stem Cell Res. 75:103321-103321(2024).
//