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Cellosaurus KOLF2.1J PPM1H KO (CVCL_C7TY)

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Cell line name KOLF2.1J PPM1H KO
Synonyms PPM1H KO iPSCs
Accession CVCL_C7TY
Resource Identification Initiative To cite this cell line use: KOLF2.1J PPM1H KO (RRID:CVCL_C7TY)
Comments Population: Caucasian; British.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:18583; PPM1H.
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).
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=37133994; DOI=10.1016/j.celrep.2023.112448; PMCID=PMC10304398
Dan Dou, Erin M. Smith, Chantell Skye Evans, Clemens-Alexander Boecker, Erika L.F. Holzbaur;
Regulatory imbalance between LRRK2 kinase, PPM1H phosphatase, and ARF6 GTPase disrupts the axonal transport of autophagosomes.
Cell Rep. 42:112448.1-112448.21(2023)

Cross-references
Encyclopedic resources Wikidata; Q117704577
Entry history
Entry creation21-Mar-2023
Last entry update27-Nov-2025
Version number4