ID   CMGANTi008-A
AC   CVCL_D0D7
SY   iPSC_MFS_FBN1_Fi930129_C8
DR   BioSamples; SAMEA112366464
DR   hPSCreg; CMGANTi008-A
DR   Wikidata; Q123030953
RX   PubMed=36801568;
CC   From: Center of Medical Genetics Antwerp; Antwerp; Belgium.
CC   Population: Caucasian; Belgian.
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Cys1791Tyr (c.5372G>A); ClinVar=VCV000263568; Zygosity=Heterozygous (PubMed=36801568).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34807; Marfan syndrome
DI   ORDO; Orphanet_558; Marfan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=36801568; DOI=10.1016/j.scr.2023.103050;
RA   Peeters S., Fedoryshchenko I., Rabaut L., Verstraeten A., Loeys B.L.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line of a
RT   Marfan syndrome patient with a pathogenic FBN1 c.5372G>A
RT   (p.Cys1791Tyr) variant.";
RL   Stem Cell Res. 68:103050-103050(2023).
//