Cellosaurus logo
expasy logo

Cellosaurus RCPFi004-A (CVCL_A8HL)

[Text version]
Cell line name RCPFi004-A
Synonyms PLANFiPS1-Sv4F-1
Accession CVCL_A8HL
Resource Identification Initiative To cite this cell line use: RCPFi004-A (RRID:CVCL_A8HL)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Principe Felipe Centro de Investigacion; Valencia; Spain.
Population: Arab.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 9039; PLA2G6; Simple; p.Glu786Lys (c.2356G>A); ClinVar=VCV001012262; Zygosity=Homozygous (PubMed=34087982).
Disease Infantile neuroaxonal dystrophy (NCIt: C84927)
Infantile neuroaxonal dystrophy (ORDO: Orphanet_35069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=34087982; DOI=10.1016/j.scr.2021.102338
Machuca-Arellano C., Correa-Vela M., Garcia-Navas D., Darling A., Villalon-Garcia I., Sanchez-Alcazar J.A., Perez-Duenas B., Erceg S., Espinos C.
Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients.
Stem Cell Res. 53:102338-102338(2021)

Cross-references
Cell line databases/resources hPSCreg; RCPFi004-A
Encyclopedic resources Wikidata; Q107116728
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5