Cellosaurus cell line KOLF2.1J AAVS1-TREG3-NGN2 CHMP2B-/- (CVCL

Entry history
Cell line name	KOLF2.1J AAVS1-TREG3-NGN2 CHMP2B-/-
Synonyms	KOLF2.1 iPSCs AAVS1-NGN2 CHMP2B-/-
Accession	CVCL_E3Y0
Resource Identification Initiative	To cite this cell line use: KOLF2.1J AAVS1-TREG3-NGN2 CHMP2B-/- (RRID:CVCL_E3Y0)
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). Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:24537; CHMP2B. 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_D1J6 (KOLF2.1J AAVS1-TREG3-NGN2)
Sex of cell	Male
Age at sampling	55-59Y
Category	Induced pluripotent stem cell
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1