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Cellosaurus IOCVi001-A (CVCL_D6ME)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; IOCVi001-A
Biological sample resources BioSamples; SAMEA114771343
Encyclopedic resources Wikidata; Q127382387
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2