ID   SCVIi129-A
AC   CVCL_E4FF
SY   SCVI-2454; SCVI 2454; SCVI2454
DR   BioSamples; SAMEA115829496
DR   hPSCreg; SCVIi129-A
RX   PubMed=39096853;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: South Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Cys652Arg (c.1954T>C); ClinVar=VCV000839687; Zygosity=Heterozygous (PubMed=39096853).
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   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39096853; DOI=10.1016/j.scr.2024.103518;
RA   Vacante F., Venkateshappa R., Htet M.H., Yan C.D., Wu J.C.;
RT   "Generation of Marfan syndrome-specific induced pluripotent stem cells
RT   harboring FBN1 mutations.";
RL   Stem Cell Res. 80:103518-103518(2024).
//