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	Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Formulario%2520de%2520deposito%2520CARS-FiPS4F1.pdf Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexos%2520CARS-FiPS4F1.pdf
Publications	PubMed=30384130; DOI=10.1016/j.scr.2018.10.016 Candela Machuca-Arellano, Angel Vilches, Eleonora Clemente, Samuel Ignacio Pascual-Pascual, Arantxa Bolinches-Amoros, Ana Artero Castro, Carmen Espinos, Marian Leon, Pavla Jendelova, Slaven Erceg; 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	10-Apr-2025
Version number	11