ID   WIBRe001-A-15
AC   CVCL_C7UZ
SY   WIBR3_DNAJC6_c.801-2A>G+FS/FS_G12-2; WIBR3_DNAJC6_c.801-2A>G+FS/c.801-2A>G_G12-2; CALe002-A-15
DR   BioSamples; SAMEA114410564
DR   hPSCreg; WIBRe001-A-15
DR   Wikidata; Q123033882
RX   PubMed=38405931;
CC   Sequence variation: Mutation; HGNC; HGNC:15469; DNAJC6; Simple_edited; c.801-2A>G (IVS6AS,A-G,-2); ClinVar=VCV000088854; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Splice acceptor mutation (PubMed=38405931).
CC   Sequence variation: Mutation; HGNC; HGNC:15469; DNAJC6; Simple_edited; p.Met272Serfs (c.815_836del); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38405931).
CC   Sequence variation: Mutation; HGNC; HGNC:15469; DNAJC6; Simple_edited; c.823_826del; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38405931).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C198608; Parkinson disease 19A, juvenile-onset
DI   NCIt; C198609; Parkinson disease 19B, early-onset
DI   ORDO; Orphanet_2828; Young-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: 29-06-23; Last updated: 10-04-25; Version: 7
//
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).
//