ID   KOLF2.1J DJ1 L166P clone 1
AC   CVCL_D6I7
DR   Wikidata; Q127382564
RX   PubMed=38200091;
CC   Population: Caucasian; British.
CC   Sequence variation: Mutation; HGNC; HGNC:18037; ARID2; Simple_corrected; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:16369; PARK7; Simple_edited; p.Leu166Pro (c.497T>C); ClinVar=VCV000007064; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38200091).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198606; Parkinson disease 7, autosomal recessive early-onset
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_B5P3 ! KOLF2.1J
SX   Male
AG   55-59Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
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RX   PubMed=38200091; DOI=10.1038/s41467-024-44732-2; PMCID=PMC10781970;
RA   Parfitt G.M., Coccia E., Goldman C., Whitney K., Reyes R.,
RA   Sarrafha L., Nam K.H., Sohail S., Jones D.R., Crary J.F., Ordureau A.,
RA   Blanchard J., Ahfeldt T.;
RT   "Disruption of lysosomal proteolysis in astrocytes facilitates
RT   midbrain organoid proteostasis failure in an early-onset Parkinson's
RT   disease model.";
RL   Nat. Commun. 15:447.1-447.17(2024).
//