ID   RCPFi004-A
AC   CVCL_A8HL
SY   PLANFiPS1-Sv4F-1
DR   hPSCreg; RCPFi004-A
DR   Wikidata; Q107116728
RX   PubMed=34087982;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+PLANFiPS1-Sv4F-1+Solicitud+de+dep%C3%B3sito.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Principe Felipe Centro de Investigacion; Valencia; Spain.
CC   Population: Arab.
CC   Sequence variation: Mutation; HGNC; HGNC:9039; PLA2G6; Simple; p.Glu786Lys (c.2356G>A); ClinVar=VCV001012262; Zygosity=Homozygous (PubMed=34087982).
CC   Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84927; Infantile neuroaxonal dystrophy
DI   ORDO; Orphanet_35069; Infantile neuroaxonal dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 10-04-25; Version: 7
//
RX   PubMed=34087982; DOI=10.1016/j.scr.2021.102338;
RA   Machuca-Arellano, Candela
RA   Correa-Vela, Marta
RA   Garcia-Navas, Deyanira
RA   Darling, Alejandra
RA   Villalon-Garcia, Irene
RA   Sanchez-Alcazar, Jose Antonio
RA   Perez-Duenas, Belen
RA   Erceg, Slaven
RA   Espinos, Carmen
RT   "Generation of three human iPSC lines from PLAN (PLA2G6-associated
RT   neurodegeneration) patients.";
RL   Stem Cell Res. 53:102338-102338(2021).
//