Cellosaurus cell line KOLF2.1J AAVS1-TREG3-NGN2 (CVCL

Cellosaurus KOLF2.1J AAVS1-TREG3-NGN2 (CVCL_D1J6)

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Cell line name

KOLF2.1J AAVS1-TREG3-NGN2

Accession

CVCL_D1J6

Resource Identification Initiative

To cite this cell line use: KOLF2.1J AAVS1-TREG3-NGN2 (RRID:CVCL_D1J6)

Comments

Population: Caucasian; British.
Characteristics: Using CRISPR/Cas9 a TRE3G promoter driven NEUROG2 construct was introduced in the AAVS1 safe harbor locus.
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: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_B5P3 (KOLF2.1J)
Children:

CVCL_D1KS (KOLF2.1J AAVS1-TREG3-NGN2 ATG12-/-)	CVCL_E3Y2 (KOLF2.1J AAVS1-TREG3-NGN2 CHMP2B I29V/I29V)	CVCL_E3Y1 (KOLF2.1J AAVS1-TREG3-NGN2 CHMP2B Q165X/+)
CVCL_E3Y0 (KOLF2.1J AAVS1-TREG3-NGN2 CHMP2B-/-)

Sex of cell

Male

Age at sampling

55-59Y