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Cellosaurus PG64SV.2 (CVCL_DQ62)

[Text version]
Cell line name PG64SV.2
Accession CVCL_DQ62
Resource Identification Initiative To cite this cell line use: PG64SV.2 (RRID:CVCL_DQ62)
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; 9179; POLG; Simple; p.Trp748Ser (c.2243G>C); ClinVar=VCV000013507; Zygosity=Homozygous (PubMed=27345795).
Disease POLG-related spectrum disorders (NCIt: C157267)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 36Y
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/75/Caracteristicas%20-%20SOLICITUD_DE_DEPOSITO_PG64SV2_FIRMADA.pdf

PubMed=27345795; DOI=10.1016/j.scr.2015.12.016
Zurita-Diaz F., Galera-Monge T., Gonzalez-Paramos C., Moreno-Izquierdo A., Schneiderat P., Fraga M.F., Fernandez A.F., Garesse R., Gallardo M.E.
Generation of a human iPSC line from a patient with a defect of intergenomic communication.
Stem Cell Res. 16:120-123(2016)

Encyclopedic resources Wikidata; Q54947323
Entry history
Entry creation13-Jul-2016
Last entry update05-Oct-2023
Version number10