ID   KOLF2.1J PPM1H KO
AC   CVCL_C7TY
SY   PPM1H KO iPSCs
DR   Wikidata; Q117704577
RX   DOI=10.1101/2022.11.14.516471;
CC   Population: Caucasian; British.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; 18583; PPM1H.
CC   Sequence variation: Mutation; 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; 2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_B5P3 ! KOLF2.1J
SX   Male
AG   55-59Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
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RX   DOI=10.1101/2022.11.14.516471;
RA   Dou D., Smith E.M., Evans C.S., Boecker C.-A., Holzbaur E.L.F.;
RT   "Regulatory imbalance between LRRK2 kinase, PPM1H phosphatase, and
RT   ARF6 GTPase disrupts the axonal transport of autophagosomes.";
RL   bioRxiv 2022:11.14.516471-11.14.516471(2022).
//