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; 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 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: 10-04-25; Version: 5
//
RX   PubMed=38405931; DOI=10.1101/2024.02.12.579917; PMCID=PMC10888955;
RA   Busquets Figueras, Oriol
RA   Li, Han-Qin
RA   Syed, Khaja Mohieddin
RA   Alvarez Jerez, Pilar
RA   Dunnack, Jesse
RA   Lo Bu, Riana
RA   Verma, Yogendra
RA   Pangilinan, Gabriella Rita
RA   Martin, Annika
RA   Straub, Jannes
RA   Du, Yu-Xin
RA   Simon, Vivien Madeleine
RA   Poser, Steven
RA   Bush, Zipporiah
RA   Diaz, Jessica
RA   Sahagun, Atehsa
RA   Gao, Jian-Pu
RA   Hernandez, Dena Godwin
RA   Levine, Kristin S.
RA   Booth, Ezgi O.
RA   Bateup, Helen S.
RA   Rio, Donald C.
RA   Hockemeyer, Dirk
RA   Blauwendraat, Cornelis
RA   Soldner, Frank F.
RT   "iSCORE-PD: an isogenic stem cell collection to research Parkinson
RT   disease.";
RL   bioRxiv 2024:02.12.579917-02.12.579917(2024).
//