Cellosaurus cell line PG64SV.2 (CVCL

Cross-references
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; 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
Publications	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 creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	11