Cellosaurus cell line KOLF2.1J PANK2 C.1413-1G>T SNV/WT (CVCL

Entry history
Cell line name	KOLF2.1J PANK2 C.1413-1G>T SNV/WT
Synonyms	JIPSC002034
Accession	CVCL_E4W8
Resource Identification Initiative	To cite this cell line use: KOLF2.1J PANK2 C.1413-1G>T SNV/WT (RRID:CVCL_E4W8)
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: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). Mutation; HGNC; HGNC:15894; PANK2; Simple_edited; c.1413-1G>T; ClinVar=VCV000004559; Zygosity=Heterozygous; Note=By CRISPR/Cas9. Splice acceptor mutation (JAX).
Disease	Pantothenate kinase-associated neurodegeneration (NCIt: C84988) Atypical pantothenate kinase-associated neurodegeneration (ORDO: Orphanet_216873)
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	https://www.jax.org/jax-mice-and-services/ipsc/cells-collection/JIPSC002034
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1