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Cellosaurus GFM1SV.25 (CVCL_9U77)

[Text version]
Cell line name GFM1SV.25
Accession CVCL_9U77
Resource Identification Initiative To cite this cell line use: GFM1SV.25 (RRID:CVCL_9U77)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Instituto de Investigaciones Biomedicas Alberto Sols; Madrid; Spain.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 13780; GFM1; Simple; p.Gly469Valfs*84 (c.1404delA); ClinVar=VCV000812087; Zygosity=Heterozygous (PubMed=27345796).
  • Mutation; HGNC; 13780; GFM1; Simple; p.Arg671Cys (c.2011C>T); ClinVar=VCV000214500; Zygosity=Heterozygous (PubMed=27345796).
Disease Combined oxidative phosphorylation deficiency 1 (NCIt: C125663)
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (ORDO: Orphanet_137681)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5-6Y
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/76/Caracteristicas%20-%20SOLICITUD_DE_DEPOSITO_GFM1SV25_FIRMADA.pdf

PubMed=27345796; DOI=10.1016/j.scr.2015.12.019
Zurita-Diaz F., Galera-Monge T., Moreno-Izquierdo A., Fraga M.F., Ayuso C., Fernandez A.F., Garesse R., Gallardo M.E.
Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.
Stem Cell Res. 16:124-127(2016)

Encyclopedic resources Wikidata; Q54835738
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number13