Cellosaurus logo
expasy logo

Cellosaurus KOLF2.1J PPM1H KO (CVCL_C7TY)

[Text version]
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

DOI=10.1101/2022.11.14.516471
Dou D., Smith E.M., Evans C.S., Boecker C.-A., Holzbaur E.L.F.
Regulatory imbalance between LRRK2 kinase, PPM1H phosphatase, and ARF6 GTPase disrupts the axonal transport of autophagosomes.
bioRxiv 2022:11.14.516471-11.14.516471(2022)

Cross-references
Encyclopedic resources Wikidata; Q117704577
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3