ID   IOCVi001-A
AC   CVCL_D6ME
SY   iPSC-UNAM/IOCV-MFRP
DR   BioSamples; SAMEA114771343
DR   hPSCreg; IOCVi001-A
DR   Wikidata; Q127382387
RX   PubMed=38217995;
CC   From: Institute of Ophthalmology Conde de Valenciana; Mexico City; Mexico.
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; 18121; MFRP; Simple; p.Asn167Glnfs*34 (c.498dupC) (c.498_499insC); ClinVar=VCV000004478; Zygosity=Homozygous (PubMed=38217995).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C206113; Nanophthalmos 2
DI   ORDO; Orphanet_35612; Nanophthalmos
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   64Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38217995; DOI=10.1016/j.scr.2024.103309;
RA   Mora-Roldan G.A., Nava J., Gazarian K.G., Zenteno J.C.;
RT   "Generation of the induced pluripotent stem cell line IOCVi001-A from
RT   a patient with the MFRP-related retinitis pigmentosa-nanophthalmos
RT   syndrome.";
RL   Stem Cell Res. 75:103309-103309(2024).
//