Cellosaurus logo
expasy logo

Cellosaurus ESi063-A (CVCL_VP83)

[Text][XML][JSON]
Cell line name ESi063-A
Synonyms ARS-FiPS4F1
Accession CVCL_VP83
Resource Identification Initiative To cite this cell line use: ESi063-A (RRID:CVCL_VP83)
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, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10519; SACS; Simple; p.Gln3313Glyfs*11 (c.9938delC); Zygosity=Heterozygous (PubMed=30144656).
  • Mutation; HGNC; HGNC:10519; SACS; Simple; p.Arg3792Ter (c.11374C>T); ClinVar=VCV000370283; Zygosity=Heterozygous (PubMed=30144656).
Disease Autosomal recessive spastic ataxia of Charlevoix-Saguenay (NCIt: C154614)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ORDO: Orphanet_98)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 14Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX,Y
CSF1PO11,13
D5S81811
D7S82010,12
D13S31711,12
D16S53911,13
D21S1128,29
TH016,7
TPOX8,11
vWA17,19

Run an STR similarity search on this cell line
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Formulario%2520de%2520deposito%2520ARS-FiPS4F1.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo%2520ARS-FiPS4F1-V2.pdf
Publications

PubMed=30144656; DOI=10.1016/j.scr.2018.07.012
Candela Machuca-Arellano, Angel Vilches, Eleonora Clemente, Samuel Ignacio Pascual-Pascual, Arantxa Bolinches-Amoros, Ana Artero Castro, Carmen Espinos, Marian Leon Rodriguez, Pavla Jendelova, Slaven Erceg;
Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.
Stem Cell Res. 31:249-252(2018)

Cross-references
Cell line databases/resources hPSCreg; ESi063-A
Encyclopedic resources Wikidata; Q93545354
Entry history
Entry creation07-Sep-2018
Last entry update10-Apr-2025
Version number14