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KOLF2.1 iPSCs AAVS1-NGN2 ATG12-/-
Output Details
Description
iPSCs lacking the core autophagy factor ATG12 for generation of iNeurons
KOLF2.1 iPSCs AAVS1-NGN2 ATG12-/-
Population: Caucasian; British.
Characteristics: Using CRISPR/Cas9 a TRE3G promoter driven NEUROG2 construct was introduced in the AAVS1 safe harbor locus.
Knockout cell: Method=CRISPR/Cas9; HGNC; 588; ATG12.
Sequence variation: Mutation; HGNC; 18037; ARID2; Simple_corrected; p.Pro197 Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36459969).
Sequence variation: Mutation; HGNC; 2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
Sequence variation: Mutation; HGNC; 2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (from parent cell line).
Transfected with: HGNC; 13805; NEUROG2.
Miscellaneous: Cell line information from personal communication of Harper J.W.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
NCBI_TaxID=9606; ! Homo sapiens (Human)
RRID:CVCL_D1J6 ! KOLF2.1J AAVS1-TREG3-NGN2
Male
55-59Y
Induced pluripotent stem cell