| Cell line name |
KOLF2.1J DJ1 L166P clone 1 |
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| Accession |
CVCL_D6I7 |
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| Resource Identification Initiative |
To cite this cell line use: KOLF2.1J DJ1 L166P clone 1 (RRID:CVCL_D6I7) |
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| Comments |
Population: Caucasian; British.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| 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).
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| Disease |
Parkinson disease 7, autosomal recessive early-onset (NCIt: C198606)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Hierarchy |
Parent: CVCL_B5P3 (KOLF2.1J) |
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| Sex of cell |
Male |
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| Age at sampling |
55-59Y |
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| Category |
Induced pluripotent stem cell |
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| Publications | PubMed=38200091; DOI=10.1038/s41467-024-44732-2; PMCID=PMC10781970
Gustavo Morrone Parfitt, Elena Coccia, Camille Goldman, Kristen Whitney, Ricardo Reyes, Lily Sarrafha, Ki Hong Nam, Soha Sohail, Drew R. Jones, John Fonda Crary, Alban Ordureau ...Show all 13 authors... , Joel W. Blanchard, Tim Ahfeldt; Show fewer authors
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) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q127382564
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| Entry history |
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| Entry creation | 02-May-2024 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 3 |
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