ID   chHES-419
AC   CVCL_9T88
DR   Wikidata; Q54811999
RX   PubMed=26987927;
CC   From: National Engineering and Research Center of Human Stem Cells; Changsha; China.
CC   Sequence variation: Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Gln1179Argfs*25 (c.3536delA); Zygosity=Heterozygous (PubMed=26987927).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C34807; Marfan syndrome
DI   ORDO; Orphanet_558; Marfan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
//
RX   PubMed=26987927; DOI=10.1016/j.scr.2015.10.012;
RA   Yang Q.-Q., Zhou X.-Y., Zhou H., Li L., Du J., Lu G.-X., Lin G.,
RA   Ouyang Q.;
RT   "Human embryonic stem cells derived from abnormal blastocyst donated
RT   by Marfan syndrome patient.";
RL   Stem Cell Res. 15:640-642(2015).
//