ID   KOLF2.1J AAVS1-TREG3-NGN2
AC   CVCL_D1J6
DR   Wikidata; Q127382561
CC   Population: Caucasian; British.
CC   Characteristics: Using CRISPR/Cas9 a TRE3G promoter driven NEUROG2 construct was introduced in the AAVS1 safe harbor locus.
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   Genetic integration: Method=CRISPR/Cas9; Gene=HGNC; 13805; NEUROG2.
CC   Miscellaneous: Cell line information from personal communication of Harper, Jeffrey Wade.
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: 30-01-24; Last updated: 10-09-24; Version: 2
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