ID   UGENTi001-A
AC   CVCL_C6T5
SY   UGENT-MFS003
DR   BioSamples; SAMEA111501119
DR   hPSCreg; UGENTi001-A
DR   Wikidata; Q117704911
RX   PubMed=36724552;
CC   From: Ghent University; Ghent; Belgium.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Ile2585Thr (c.7754T>C); ClinVar=VCV000163462; Zygosity=Heterozygous (PubMed=36724552).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell; CL=CL_0000066.
DI   NCIt; C34807; Marfan syndrome
DI   ORDO; Orphanet_558; Marfan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 05-10-23; Version: 3
//
RX   PubMed=36724552; DOI=10.1016/j.scr.2023.103036;
RA   Aalders J., Leger L., Demolder A., Muino Mosquera L., Coucke P.,
RA   Menten B., De Backer J., van Hengel J.;
RT   "Generation of human induced pluripotent stem cell line UGENTi001-A
RT   from a patient with Marfan syndrome carrying a heterozygous c.7754 T
RT   > C variant in FBN1 and the isogenic control UGENT001-A-1 using
RT   CRISPR/Cas9 editing.";
RL   Stem Cell Res. 67:103036-103036(2023).
//