ID   RCPFi006-A
AC   CVCL_A8HN
SY   PLANFiPS3-Sv4F-1
DR   hPSCreg; RCPFi006-A
DR   Wikidata; Q107116730
RX   PubMed=34087982;
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Principe Felipe Centro de Investigacion; Valencia; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9039; PLA2G6; Simple; p.Tyr790Ter (c.2370T>G); ClinVar=VCV000006195; Zygosity=Homozygous (PubMed=34087982).
CC   Derived from site: In situ; Skin, dermis; UBERON=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: 29-06-23; Version: 5
//
RX   PubMed=34087982; DOI=10.1016/j.scr.2021.102338;
RA   Machuca C., Correa-Vela M., Garcia-Navas D., Darling A.,
RA   Villalon-Garcia I., Sanchez-Alcazar J.A., Perez-Duenas B., Erceg S.,
RA   Espinos C.;
RT   "Generation of three human iPSC lines from PLAN (PLA2G6-associated
RT   neurodegeneration) patients.";
RL   Stem Cell Res. 53:102338-102338(2021).
//