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Cellosaurus LCSBi008-A-1 (CVCL_C0JA)

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Cell line name LCSBi008-A-1
Synonyms DJ-1-delP GC13; delP GC13
Accession CVCL_C0JA
Resource Identification Initiative To cite this cell line use: LCSBi008-A-1 (RRID:CVCL_C0JA)
Comments From: Luxembourg Centre for Systems Biomedicine; Belvaux; Luxembourg.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:16369; PARK7; Simple_corrected; p.Pro158del (c.471_473delGCC); ClinVar=VCV000987356; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=35617842).
Disease Parkinson disease 7, autosomal recessive early-onset (NCIt: C198606)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_C0J9 (LCSBi008-A)
Sex of cell Male
Age at sampling 66Y
Category Induced pluripotent stem cell
Publications

PubMed=35617842; DOI=10.1016/j.scr.2022.102815
Pauline Mencke, Zoe Hanss, Javier Jarazo, Francois Massart, Arkadiusz Rybicki, Elizabet Petkovski, Enrico Glaab, Ibrahim Boussaad, Vincenzo Bonifati, Jens Christian Schwamborn, Wim Mandemakers, Rejko Kruger;
Generation of isogenic control DJ-1-delP GC13 for the genetic Parkinson's disease-patient derived iPSC line DJ-1-delP (LCSBi008-A-1).
Stem Cell Res. 62:102815-102815(2022)

Cross-references
Cell line databases/resources hPSCreg; LCSBi008-A-1
Biological sample resources BioSamples; SAMEA13914317
Encyclopedic resources Wikidata; Q112929993
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5