ID   ESi061-A
AC   CVCL_V157
SY   [PD]FiPS022-V4F-15; [PD] FiPS022-V4F-15
DR   hPSCreg; ESi061-A
DR   ISCR; 2265
DR   Wikidata; Q54832823
RX   PubMed=23075850;
WW   https://p-cmrc.cat/wp-content/uploads/2020/06/PDFiPS022-V4F-151.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/33/Caracteristicas%20-%20Deposito-Linea-PDFiPS022-V4F-15.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/33/Anexo%20-%20Anexo-deposito-PDFiPS022-V4F-15.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=23075850).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A9P7 ! FFF-022
SX   Male
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 16
//
RX   PubMed=23075850; DOI=10.1038/nature11557;
RA   Liu G.-H., Qu J., Suzuki K., Nivet E., Li M., Montserrat N., Yi F.,
RA   Xu X.-L., Ruiz S., Zhang W.-Q., Wagner U., Kim A., Ren B., Li Y.,
RA   Goebl A., Kim J., Soligalla R.D., Dubova I., Thompson J.,
RA   Yates J.R. III, Esteban C.R., Sancho-Martinez I., Izpisua Belmonte J.C.;
RT   "Progressive degeneration of human neural stem cells caused by
RT   pathogenic LRRK2.";
RL   Nature 491:603-607(2012).
//