ID   LaNCE hiPSC-37
AC   CVCL_XD82
SY   LANCEi013-A; iPS-37; iPS-37-GFN; iPS-PD/GBA2
DR   hPSCreg; LANCEi013-A
DR   Wikidata; Q95981247
RX   PubMed=31401455;
CC   From: National Laboratory of Embryonic Stem Cell (LaNCE), University of Sao Paulo; Sao Paulo; Brazil.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Heterozygous (PubMed=31401455).
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=31401455).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   60Y
CA   Induced pluripotent stem cell
DT   Created: 06-09-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31401455; DOI=10.1016/j.scr.2019.101519;
RA   Tofoli de Araujo F., Chien H.-F., Barbosa E.R., Pereira L.V.;
RT   "Generation of three human induced pluripotent stem cell (hiPSC) lines
RT   derived from one Gaucher disease patient with Parkinson's disease and
RT   two unrelated Parkinson's disease patients with GBA mutations.";
RL   Stem Cell Res. 39:101519-101519(2019).
//