Cellosaurus cell line KOLF2.1J EIF2B5 R195H REV/REV (CVCL

Entry history
Cell line name	KOLF2.1J EIF2B5 R195H REV/REV
Synonyms	JIPSC001550
Accession	CVCL_E7KR
Resource Identification Initiative	To cite this cell line use: KOLF2.1J EIF2B5 R195H REV/REV (RRID:CVCL_E7KR)
Comments	From: The Jackson Laboratory; Bar Harbor; USA. Population: Caucasian; British. Characteristics: Control cell line which is a CRISPR/Cas9 engineered revertant of the homozygously edited EIF2B5 p.Arg195His (c.584G>A) cell line (JAX=JIPSC001550). 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).
Disease	Leukoencephalopathy with vanishing white matter (NCIt: C122664) CACH syndrome (ORDO: Orphanet_135)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_E7KS (KOLF2.1J EIF2B5 R195H SNV/SNV)
Sex of cell	Male
Age at sampling	55-59Y
Category	Induced pluripotent stem cell
Web pages	Provider; JAX; JIPSC001550; https://www.jax.org/jax-mice-and-services/ipsc/cells-collection/JIPSC001550
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1