ID   LANCEi021-A
AC   CVCL_A9AD
SY   IPSC2; iPS-2; iPS-MFS1
DR   hPSCreg; LANCEi021-A
DR   Wikidata; Q108820666
RX   PubMed=34062330;
CC   From: National Laboratory of Embryonic Stem Cell (LaNCE), University of Sao Paulo; Sao Paulo; Brazil.
CC   Sequence variation: Mutation; HGNC; 3603; FBN1; Simple; p.Tyr2272Asp (c.6814T>G); Zygosity=Heterozygous (PubMed=34062330).
CC   Omics: SNP array analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: Erythroblast; CL=CL_0000765.
DI   NCIt; C34807; Marfan syndrome
DI   ORDO; Orphanet_558; Marfan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34062330; DOI=10.1016/j.scr.2021.102407;
RA   Borsoi J., Morato-Marques M., Tofoli de Araujo F., Pereira L.A.,
RA   Farinha-Arcieri L.E., Sarafian R.D., Alvarez Perez A.B.,
RA   Pereira L.V.;
RT   "Generation of two human induced pluripotent stem cell (hiPSC) lines
RT   derived from unrelated Marfan syndrome patients.";
RL   Stem Cell Res. 54:102407-102407(2021).
//