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Cellosaurus RCPFi006-A (CVCL_A8HN)

[Text version]

Cell line name RCPFi006-A
Synonyms PLANFiPS3-Sv4F-1
Accession CVCL_A8HN
Resource Identification Initiative To cite this cell line use: RCPFi006-A (RRID:CVCL_A8HN)
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 sampling site: Skin; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 9039; PLA2G6; Simple; p.Tyr790Ter (c.2370T>G); ClinVar=VCV000006195; 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 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; RCPFi006-A
Encyclopedic resources Wikidata; Q107116730
Entry history
Entry creation20-May-2021
Last entry update17-Mar-2022
Version number3