Cellosaurus cell line KOLF2.1J DCTN1 G59S REV/WT (CVCL

Cellosaurus KOLF2.1J DCTN1 G59S REV/WT (CVCL_E7K9)

Entry history
Cell line name	KOLF2.1J DCTN1 G59S REV/WT
Synonyms	JIPSC001332
Accession	CVCL_E7K9
Resource Identification Initiative	To cite this cell line use: KOLF2.1J DCTN1 G59S REV/WT (RRID:CVCL_E7K9)
Comments	From: The Jackson Laboratory; Bar Harbor; USA. Population: Caucasian; British. Characteristics: Control cell line which is a CRISPR/Cas9 engineered revertant of the heterozygously edited DCTN1 p.Gly59Ser (c.175G>A) cell line (JAX=JIPSC001332). 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	Autosomal dominant distal hereditary motor neuronopathy-14 (NCIt: C214860) Distal hereditary motor neuropathy type 7 (ORDO: Orphanet_139589)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_E7KA (KOLF2.1J DCTN1 G59S SNV/WT)
Sex of cell	Male
Age at sampling	55-59Y
Category	Induced pluripotent stem cell
Web pages	Provider; JAX; JIPSC001332; https://www.jax.org/jax-mice-and-services/ipsc/cells-collection/JIPSC001332
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1