ID   ZZUSAHi003-A
AC   CVCL_A3ZF
DR   hPSCreg; ZZUSAHi003-A
DR   Wikidata; Q105511894
RX   PubMed=33450697;
CC   From: Zhengzhou University Second Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Cys980Tyr (c.2939G>A); Zygosity=Heterozygous (PubMed=33450697).
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   26Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33450697; DOI=10.1016/j.scr.2021.102163;
RA   Qin Z.-P., Sun L.-Q., Sun X., Gao X.-X., Su H.;
RT   "Reprogramming of a human induced pluripotent stem cell line from a
RT   Marfan syndrome patient harboring a heterozygous mutation of c.2939G >
RT   A in FBN1 gene.";
RL   Stem Cell Res. 51:102163-102163(2021).
//