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Cellosaurus KOLF2.1J DJ1 L166P clone 2 (CVCL_D6I8)

[Text version]
Cell line name KOLF2.1J DJ1 L166P clone 2
Accession CVCL_D6I8
Resource Identification Initiative To cite this cell line use: KOLF2.1J DJ1 L166P clone 2 (RRID:CVCL_D6I8)
Comments Population: Caucasian; British.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:18037; ARID2; Simple_corrected; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (from parent cell line).
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:16369; PARK7; Simple_edited; p.Leu166Pro (c.497T>C); ClinVar=VCV000007064; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38200091).
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_B5P3 (KOLF2.1J)
Sex of cell Male
Age at sampling 55-59Y
Category Induced pluripotent stem cell
Publications

PubMed=38200091; DOI=10.1038/s41467-024-44732-2; PMCID=PMC10781970
Parfitt G.M., Coccia E., Goldman C., Whitney K., Reyes R., Sarrafha L., Nam K.H., Sohail S., Jones D.R., Crary J.F., Ordureau A., Blanchard J., Ahfeldt T.
Disruption of lysosomal proteolysis in astrocytes facilitates midbrain organoid proteostasis failure in an early-onset Parkinson's disease model.
Nat. Commun. 15:447.1-447.17(2024)

Cross-references
Encyclopedic resources Wikidata; Q127382565
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3