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Cellosaurus KOLF2.1J AAVS1-TREG3-NGN2 CHMP2B I29V/I29V (CVCL_E3Y2)

[Text version]
Cell line name KOLF2.1J AAVS1-TREG3-NGN2 CHMP2B I29V/I29V
Synonyms KOLF2.1 iPSCs AAVS1-NGN2 CHMP2B I29V/I29V
Accession CVCL_E3Y2
Resource Identification Initiative To cite this cell line use: KOLF2.1J AAVS1-TREG3-NGN2 CHMP2B I29V/I29V (RRID:CVCL_E3Y2)
Comments Population: Caucasian; British.
Characteristics: Using CRISPR/Cas9 a TRE3G promoter driven NEUROG2 construct was introduced in the AAVS1 safe harbor locus (from parent cell line).
Genetic integration: Method=CRISPR/Cas9; Gene=HGNC; HGNC:13805; NEUROG2.
Miscellaneous: Cell line information from personal communication of Harper, Jeffrey Wade.
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:24537; CHMP2B; Simple_edited; p.Ile29Val (c.85A>G); ClinVar=VCV000021507; Zygosity=Homozygous; Note=By CRISPR/Cas9 (Direct_author_submission).
  • 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_D1J6 (KOLF2.1J AAVS1-TREG3-NGN2)
Sex of cell Male
Age at sampling 55-59Y
Category Induced pluripotent stem cell
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1