ID   ICCSICi005-A
AC   CVCL_WP95
SY   IC-PD5-F-iPS-4F-1
DR   hPSCreg; ICCSICi005-A
DR   Wikidata; Q94313339
RX   PubMed=31539859;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/167/Caracteristicas%20-%20Documento_Deposito_Lineas_iPS_IC-PD5-F-iPS-4F-1.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/167/Anexo%20-%20Anexos%20IC-PD5-F-iPS-4F-1.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.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=31539859).
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: 11,12
ST   D13S317: 12,14
ST   D16S539: 12,13
ST   D21S11: 28,32.2
ST   D5S818: 12
ST   D7S820: 11,12
ST   TH01: 6,9.3
ST   TPOX: 10,11
ST   vWA: 15,19
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   76Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 30-01-24; Version: 11
//
RX   PubMed=31539859; DOI=10.1016/j.scr.2019.101578;
RA   Rodriguez-Traver E., Rodriguez C., Diaz-Guerra E., Arenas F.,
RA   Arauzo-Bravo M.J., Orera M., Kulisevsky J., Moratalla R.,
RA   Vicario-Abejon C.;
RT   "Generation of an integration-free iPSC line, ICCSICi005-A, derived
RT   from a Parkinson's disease patient carrying the L444P mutation in the
RT   GBA1 gene.";
RL   Stem Cell Res. 40:101578-101578(2019).
//