ID   RG-154
AC   CVCL_B578
SY   SI-154; hESC 154; RGIe062-A
DR   hPSCreg; RGIe062-A
DR   SKIP; SKIP002161
DR   Wikidata; Q54949902
RX   PubMed=15705304;
CC   From: Reproductive Genetics Institute; Chicago; USA.
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Cys2571Tyr (c.7712G>A); ClinVar=VCV000549422; Zygosity=Unspecified (PubMed=15705304).
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   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 10-09-24; Version: 16
//
RX   PubMed=15705304; DOI=10.1016/S1472-6483(10)60810-3;
RA   Verlinsky Y., Strelchenko N., Kukharenko V., Rechitsky S.,
RA   Verlinsky O., Galat V., Kuliev A.;
RT   "Human embryonic stem cell lines with genetic disorders.";
RL   Reprod. BioMed. Online 10:105-110(2005).
//