Cellosaurus cell line GFM1SV.25 (CVCL

Cellosaurus GFM1SV.25 (CVCL_9U77)

Cross-references
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; HGNC:13780; GFM1; Simple; p.Gly469Valfs*84 (c.1404delA); ClinVar=VCV000812087; Zygosity=Heterozygous (PubMed=27345796). Mutation; HGNC; 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	Provider; BNLC; -; https://web.archive.org/web/20240420001352/https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/76/Caracteristicas%20-%20SOLICITUD_DE_DEPOSITO_GFM1SV25_FIRMADA.pdf
Publications	PubMed=27345796; DOI=10.1016/j.scr.2015.12.019 Francisco Zurita-Diaz, Teresa Galera-Monge, Ana Moreno-Izquierdo, Mario Fernandez Fraga, Carmen Ayuso, Agustin F. Fernandez, Rafael Garesse, Maria Esther Gallardo; 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 creation	23-Feb-2016
Last entry update	10-Apr-2025
Version number	15