ID   NCCDFWi001-A
AC   CVCL_YM45
DR   hPSCreg; NCCDFWi001-A
DR   SKIP; SKIP005601
DR   Wikidata; Q95992665
RX   PubMed=31901832;
RX   PubMed=34592602;
CC   From: National Center for Cardiovascular Diseases and Fuwai Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Pro228fs (c.684_736+4del); Zygosity=Heterozygous (PubMed=31901832).
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Leu871Phe (c.2613A>C); ClinVar=VCV000667457; Zygosity=Heterozygous (PubMed=31901832).
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: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31901832; DOI=10.1016/j.scr.2019.101690;
RA   Ma B.-H., Luo M.-Y., Yang H., Li T.-J., Liu W.-W., Xu F.-X., Shu C.,
RA   Chen G.-K., Zhou Z.;
RT   "Generation of a human induced pluripotent stem cell line
RT   (NCCDFWi001-A) from a Marfan syndrome patient carrying two FBN1
RT   variants (c.2613A > C and c.684_736 + 4del).";
RL   Stem Cell Res. 42:101690-101690(2020).
//
RX   PubMed=34592602; DOI=10.1016/j.scr.2021.102543;
RA   Li T.-J., Ma B.-H., Yang H., Zhu G.-Y., Shu C., Luo M.-Y., Zhou Z.;
RT   "Generation of a CRISPR/Cas9-corrected-hiPSC (NCCDFWi001-A-1) from a
RT   Marfan syndrome patient hiPSC with a heterozygous c.2613A>C variant in
RT   the fibrillin 1 (FBN1) gene.";
RL   Stem Cell Res. 56:102543-102543(2021).
//