Cellosaurus cell line IOCVi001-A (CVCL

Cross-references
Cell line name	IOCVi001-A
Synonyms	iPSC-UNAM/IOCV-MFRP
Accession	CVCL_D6ME
Resource Identification Initiative	To cite this cell line use: IOCVi001-A (RRID:CVCL_D6ME)
Comments	From: Institute of Ophthalmology Conde de Valenciana; Mexico City; Mexico. Population: Hispanic. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:18121; MFRP; Simple; p.Asn167Glnfs*34 (c.498dupC) (c.498_499insC); ClinVar=VCV000004478; Zygosity=Homozygous (PubMed=38217995).
Disease	Nanophthalmos 2 (NCIt: C206113) Nanophthalmos (ORDO: Orphanet_35612)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	64Y
Category	Induced pluripotent stem cell
Publications	PubMed=38217995; DOI=10.1016/j.scr.2024.103309 Mora-Roldan G.A., Nava J., Gazarian K.G., Zenteno J.C. Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome. Stem Cell Res. 75:103309-103309(2024)
Cell line databases/resources	hPSCreg; IOCVi001-A
Biological sample resources	BioSamples; SAMEA114771343
Encyclopedic resources	Wikidata; Q127382387
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3