ID   WIBRe001-A-45
AC   CVCL_D3YN
SY   WIBR3_GBA1_IVS2_Het_3C4B; AECMe002-A-45
DR   BioSamples; SAMEA115873269
DR   hPSCreg; WIBRe001-A-45
DR   Wikidata; Q127384700
RX   PubMed=38405931;
CC   From: Albert Einstein College of Medicine; New York; USA.
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple_edited; p.Gly39Aspfs*3 (c.115+1G>A) (IVS2+1G>A) (IVS2DS,G-A,+1); ClinVar=VCV000093445; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Splice donor mutation that causes skipping of exon 2 (PubMed=38405931).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9767 ! WIBR3
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 30-01-24; Last updated: 10-09-24; Version: 3
//
RX   PubMed=38405931; DOI=10.1101/2024.02.12.579917; PMCID=PMC10888955;
RA   Busquets Figueras O., Li H.-Q., Syed K.M., Alvarez Jerez P.,
RA   Dunnack J., Lo Bu R., Verma Y., Pangilinan G.R., Martin A., Straub J.,
RA   Du Y.-X., Simon V.M., Poser S., Bush Z., Diaz J., Sahagun A., Gao J.-P.,
RA   Hernandez D.G., Levine K.S., Booth E.O., Bateup H.S., Rio D.C.,
RA   Hockemeyer D., Blauwendraat C., Soldner F.F.;
RT   "iSCORE-PD: an isogenic stem cell collection to research Parkinson
RT   disease.";
RL   bioRxiv 2024:02.12.579917-02.12.579917(2024).
//