ID   ICCSICi002-A
AC   CVCL_UN08
SY   IC-PD2-F-iPS-4F-1
DR   hPSCreg; ICCSICi002-A
DR   Wikidata; Q94313327
RX   PubMed=31203165;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/125/Caracteristicas%20-%20Documento_Deposito_Lineas_iPS_IC-PD2-F-iPS-4F-1-v2.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/125/Anexo%20-%20Anexos-IC-PD2-F-iPS-4F-1-v2.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Instituto Cajal; Madrid; Spain.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=31203165).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 8,11
ST   D16S539: 11
ST   D21S11: 29,30
ST   D5S818: 12
ST   D7S820: 9,12
ST   TH01: 9,9.3
ST   TPOX: 8,11
ST   vWA: 16
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   75Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 30-01-24; Version: 11
//
RX   PubMed=31203165; DOI=10.1016/j.scr.2019.101482;
RA   Rodriguez-Traver E., Diaz-Guerra E., Rodriguez C., Fernandez P.,
RA   Arenas F., Arauzo-Bravo M.J., Orera M., Kulisevsky J., Moratalla R.,
RA   Vicario-Abejon C.;
RT   "A collection of integration-free iPSCs derived from Parkinson's
RT   disease patients carrying mutations in the GBA1 gene.";
RL   Stem Cell Res. 38:101482-101482(2019).
//