ID   PG64SV.2
AC   CVCL_DQ62
DR   Wikidata; Q54947323
RX   PubMed=27345795;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/75/Caracteristicas%20-%20SOLICITUD_DE_DEPOSITO_PG64SV2_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; 9179; POLG; Simple; p.Trp748Ser (c.2243G>C); ClinVar=VCV000013507; Zygosity=Homozygous (PubMed=27345795).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C157267; POLG-related spectrum disorders
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 05-10-23; Version: 10
//
RX   PubMed=27345795; DOI=10.1016/j.scr.2015.12.016;
RA   Zurita-Diaz F., Galera-Monge T., Gonzalez-Paramos C.,
RA   Moreno-Izquierdo A., Schneiderat P., Fraga M.F., Fernandez A.F.,
RA   Garesse R., Gallardo M.E.;
RT   "Generation of a human iPSC line from a patient with a defect of
RT   intergenomic communication.";
RL   Stem Cell Res. 16:120-123(2016).
//