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Cellosaurus RCPFi005-A (CVCL_A8HM)

[Text version]
Cell line name RCPFi005-A
Synonyms PLANFiPS2-Sv4F-1
Accession CVCL_A8HM
Resource Identification Initiative To cite this cell line use: RCPFi005-A (RRID:CVCL_A8HM)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Principe Felipe Centro de Investigacion; Valencia; Spain.
Population: Caucasian.
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.Leu337Gln (c.1010T>A); Zygosity=Heterozygous (PubMed=34087982).
  • Mutation; HGNC; 9039; PLA2G6; Simple; p.Ala343Thr (c.1027G>A); ClinVar=VCV000159725; Zygosity=Heterozygous (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 Female
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; RCPFi005-A
Encyclopedic resources Wikidata; Q107116729
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5