ID   CMGANTi005-A
AC   CVCL_D0QU
SY   iPSC_MFS_FBN1_MCE-KB_C8
DR   BioSamples; SAMEA112328776
DR   hPSCreg; CMGANTi005-A
DR   Wikidata; Q123030949
RX   PubMed=36708686;
CC   From: Center of Medical Genetics Antwerp; Antwerp; Belgium.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Ile2585Thr (c.7754T>C); ClinVar=VCV000163462; Zygosity=Heterozygous (PubMed=36708686).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34807; Marfan syndrome
DI   ORDO; Orphanet_558; Marfan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   68Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=36708686; DOI=10.1016/j.scr.2023.103032;
RA   van den Heuvel L.J.F., Peeters S., Meester J.A.N., Perik M.H.A.M.,
RA   Coucke P., Loeys B.L.;
RT   "A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A)
RT   of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr)
RT   variation.";
RL   Stem Cell Res. 67:103032-103032(2023).
//