Cellosaurus cell line ESi064-A (CVCL

Cross-references
Cell line name	ESi064-A
Synonyms	CARS-FiPS4F1
Accession	CVCL_UG20
Resource Identification Initiative	To cite this cell line use: ESi064-A (RRID:CVCL_UG20)
Comments	Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection. From: Principe Felipe Centro de Investigacion; Valencia; Spain. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10519; SACS; Simple; p.Arg3792Ter (c.11374C>T); ClinVar=VCV000370283; Zygosity=Heterozygous (PubMed=30384130).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	29Y
Category	Induced pluripotent stem cell
Web pages	https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/172/Caracteristicas%20-%20Formulario%20de%20deposito%20CARS-FiPS4F1.pdf
Publications	PubMed=30384130; DOI=10.1016/j.scr.2018.10.016 Machuca-Arellano C., Vilches A., Clemente E., Pascual-Pascual S.I., Bolinches-Amoros A., Artero Castro A., Espinos C., Leon M., Jendelova P., Erceg S. Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene. Stem Cell Res. 33:166-170(2018)
Cell line databases/resources	hPSCreg; ESi064-A
Encyclopedic resources	Wikidata; Q93545359
Entry history
Entry creation	13-Nov-2018
Last entry update	19-Dec-2024
Version number	10