ID   ICSSUi001-A
SY   FBN1-C2633G-iPSC
DR   BioSamples; SAMEA8286668
DR   hPSCreg; ICSSUi001-A
DR   Wikidata; Q110432917
RX   PubMed=35231796;
CC   From: Institute for Cardiovascular Science of Soochow University; Suzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Cys2633Gly (c.7897T>G); ClinVar=VCV000984411; Zygosity=Heterozygous (PubMed=35231796).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 5
RX   PubMed=35231796; DOI=10.1016/j.scr.2022.102720;
RA   Yu Y., Shen H., Zhu J.-Z., Cao X.-Y., Li Q., Shao L.-B., Shen Z.-Y.;
RT   "Generation of Marfan patient specific iPSCs (ICSSUi001-A) carrying a
RT   novel heterozygous mutation in FBN1 gene.";
RL   Stem Cell Res. 60:102720-102720(2022).