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Cellosaurus WIBRe001-A-47 (CVCL_D3YE)

[Text version]
Cell line name WIBRe001-A-47
Synonyms WIBR3_SYNJ1_R258Q/FS_E4-1; AECMe002-A-47
Accession CVCL_D3YE
Resource Identification Initiative To cite this cell line use: WIBRe001-A-47 (RRID:CVCL_D3YE)
Comments From: Albert Einstein College of Medicine; New York; USA.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:11503; SYNJ1; Simple_edited; p.Val218Cysfs*6 (c.651_652insT) (p.Val257Cysfs*6, c.768_769insT); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38405931).
  • Mutation; HGNC; HGNC:11503; SYNJ1; Simple_edited; p.Arg219Gln (c.656G>A) (p.Arg258Gln, c.773G>A); ClinVar=VCV000088844; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38405931).
Disease Parkinson disease 20, early-onset (NCIt: C203535)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_9767 (WIBR3)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

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

Cross-references
Cell line databases/resources hPSCreg; WIBRe001-A-47
Biological sample resources BioSamples; SAMEA115873271
Encyclopedic resources Wikidata; Q127384704
Entry history
Entry creation30-Jan-2024
Last entry update10-Apr-2025
Version number5