Cellosaurus cell line KOLF2.2J (CVCL

Cellosaurus KOLF2.2J (CVCL_F4CV)

Entry history
Cell line name	KOLF2.2J
Accession	CVCL_F4CV
Resource Identification Initiative	To cite this cell line use: KOLF2.2J (RRID:CVCL_F4CV)
Comments	Part of: Molecular Phenotypes of Null Alleles in Cells (MorPhiC) consortium collection. Part of: Scalable and Systematic Neurobiology of Psychiatric and Neurodevelopmental Disorder Risk Genes (SSPsyGene) consortium collection. 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:2201; COL3A1; Simple_corrected; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation; Note=By CRISPR/Cas9 (PubMed=39939790). Mutation; HGNC; HGNC:2201; COL3A1; Simple_corrected; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39939790).
Disease	Susceptibility to multiple system atrophy-1 (NCIt: C214868) Multiple system atrophy (ORDO: Orphanet_102)
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; JIPSC003902; https://www.jax.org/jax-mice-and-services/ipsc/cells-collection/JIPSC003902
Publications	PubMed=39939790; DOI=10.1038/s41586-024-08243-w; PMCID=PMC12088665 Mazhar Adli, Laralynne Przybyla, Anthony Burdett, Paul Weisley Burridge, Pilar Cacheiro, Howard Yuan-Hao Chang, Jesse Michael Engreitz, Luke A. Gilbert, William James Greenleaf, Li Hsu, Dan-Wei Huangfu ...Show all 29 authors... , Ling-Hong Hung, Anshul Kundaje, Sheng Li, Helen E. Parkinson, Xiao-Jie Qiu, Paul Robson, Stephan C. Schurer, Ali Shojaie, William C. Skarnes, Damian Smedley, Lorenz P. Studer, Wei Sun, Dusica Vidovic, Thomas Vierbuchen, Brian S. White, Ka Yee Yeung, Feng Yue, Ting Zhou; Show fewer authors MorPhiC Consortium MorPhiC Consortium: towards functional characterization of all human genes. Nature 638:351-359(2025)
Entry creation	25-Jun-2026
Last entry update	25-Jun-2026
Version number	1