Cellosaurus cell line KOLF2.1J ATM K750K SNV/WT (CVCL

Entry history
Cell line name	KOLF2.1J ATM K750K SNV/WT
Synonyms	JIPSC003004
Accession	CVCL_E7PS
Resource Identification Initiative	To cite this cell line use: KOLF2.1J ATM K750K SNV/WT (RRID:CVCL_E7PS)
Comments	From: The Jackson Laboratory; Bar Harbor; USA. Population: Caucasian; British. 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:795; ATM; Simple_edited; p.Lys750Lys (c.2250G>A); ClinVar=VCV000003044; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Causes skipping of exon 14 (p.Ile709_Lys750del, c.2125_2250del) (JAX). 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).
Disease	Ataxia telangiectasia syndrome (NCIt: C2887) Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_B5P3 (KOLF2.1J)
Sex of cell	Male
Age at sampling	55-59Y
Category	Induced pluripotent stem cell
Web pages	Provider; JAX; JIPSC003004; https://www.jax.org/jax-mice-and-services/ipsc/cells-collection/JIPSC003004
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1