ID   ICCSICi004-A
AC   CVCL_UN10
SY   IC-PD4-F-iPS-4F-1
DR   hPSCreg; ICCSICi004-A
DR   Wikidata; Q94313335
RX   PubMed=31203165;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento_Deposito_Lineas_iPS_IC-PD4-F-iPS-4F-1-v2.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexos-IC-PD4-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; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; 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,Y
ST   CSF1PO: 11,13
ST   D13S317: 10,12
ST   D16S539: 9,12
ST   D21S11: 29,33.2
ST   D5S818: 11
ST   D7S820: 8,10
ST   TH01: 9.3
ST   TPOX: 8
ST   vWA: 14,16
DI   NCIt; C26845; Parkinson disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 10-04-25; Version: 14
//
RX   PubMed=31203165; DOI=10.1016/j.scr.2019.101482;
RA   Rodriguez-Traver, Eva
RA   Diaz-Guerra, Eva
RA   Rodriguez, Cesar
RA   Fernandez, Pablo
RA   Arenas, Fabian
RA   Arauzo-Bravo, Marcos J.
RA   Orera, Maria
RA   Kulisevsky, Jaime
RA   Moratalla, Rosario
RA   Vicario-Abejon, Carlos
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).
//