KOLF2.1 iPSCs AAVS1-NGN2

iPSCs for generation of iNeurons Population: Caucasian; British. Characteristics: Using CRISPR/Cas9 a TRE3G promoter driven NEUROG2 construct was introduced in the AAVS1 safe harbor locus. 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_B5P3 ! KOLF2.1J Male 55-59Y Induced pluripotent stem cell