Cellosaurus cell line RCPFi004-A (CVCL

Cellosaurus RCPFi004-A (CVCL_A8HL)

Cross-references
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; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 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
Web pages	Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+PLANFiPS1-Sv4F-1+Solicitud+de+dep%C3%B3sito.pdf
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)
Cell line databases/resources	hPSCreg; RCPFi004-A
Encyclopedic resources	Wikidata; Q107116728
Entry history
Entry creation	20-May-2021
Last entry update	10-Apr-2025
Version number	7