ID   IOCVi002-A
AC   CVCL_F0SZ
SY   IOCV-FOXE3
DR   BioSamples; SAMEA115935038
DR   hPSCreg; IOCVi002-A
RX   PubMed=40850233;
CC   From: Institute of Ophthalmology Conde de Valenciana; Mexico City; Mexico.
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:3808; FOXE3; Simple; p.Tyr98His (c.292T>C); Zygosity=Homozygous (PubMed=40850233).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C222344; Anterior segment dysgenesis 2
DI   ORDO; Orphanet_83461; Congenital primary aphakia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//
RX   PubMed=40850233; DOI=10.1016/j.scr.2025.103816;
RA   Nava, Jessica
RA   Galvez-Romero, Guillermo
RA   Mora-Roldan, German Atzin
RA   Parada-Parra, Oscar Javier
RA   Hernandez-Cruz, Arturo
RA   Zenteno, Juan Carlos
RT   "Generation of the induced pluripotent stem cell line IOCVi002-A from
RT   a patient with the FOXE3-related sclerocornea-aphakia malformation.";
RL   Stem Cell Res. 88:103816-103816(2025).
//