ID   GFM1SV.25
AC   CVCL_9U77
DR   Wikidata; Q54835738
RX   PubMed=27345796;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/76/Caracteristicas%20-%20SOLICITUD_DE_DEPOSITO_GFM1SV25_FIRMADA.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Instituto de Investigaciones Biomedicas Alberto Sols; Madrid; Spain.
CC   Sequence variation: Mutation; HGNC; 13780; GFM1; Simple; p.Gly469Valfs*84 (c.1404delA); ClinVar=VCV000812087; Zygosity=Heterozygous (PubMed=27345796).
CC   Sequence variation: Mutation; HGNC; 13780; GFM1; Simple; p.Arg671Cys (c.2011C>T); ClinVar=VCV000214500; Zygosity=Heterozygous (PubMed=27345796).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125663; Combined oxidative phosphorylation deficiency 1
DI   ORDO; Orphanet_137681; Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5-6Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 13
//
RX   PubMed=27345796; DOI=10.1016/j.scr.2015.12.019;
RA   Zurita-Diaz F., Galera-Monge T., Moreno-Izquierdo A., Fraga M.F.,
RA   Ayuso C., Fernandez A.F., Garesse R., Gallardo M.E.;
RT   "Generation of a human iPSC line from a patient with a mitochondrial
RT   encephalopathy due to mutations in the GFM1 gene.";
RL   Stem Cell Res. 16:124-127(2016).
//