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Cellosaurus KOLF2.1J PANK2 C.1413-1G>T REV/REV (CVCL_E4W6)

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Cell line name KOLF2.1J PANK2 C.1413-1G>T REV/REV
Synonyms JIPSC002036
Accession CVCL_E4W6
Resource Identification Initiative To cite this cell line use: KOLF2.1J PANK2 C.1413-1G>T REV/REV (RRID:CVCL_E4W6)
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 PANK2 c.1413-1G>T cell line (JAX=JIPSC002036).
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=Homozygous; 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 Brain iron accumulation type I syndrome (NCIt: C8967)
Atypical pantothenate kinase-associated neurodegeneration (ORDO: Orphanet_216873)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_E4W7 (KOLF2.1J PANK2 C.1413-1G>T SNV/SNV)
Sex of cell Male
Age at sampling 55-59Y
Category Induced pluripotent stem cell
Web pages Provider; JAX; JIPSC002036; https://www.jax.org/jax-mice-and-services/ipsc/cells-collection/JIPSC002036
Entry history
Entry creation19-Dec-2024
Last entry update14-Aug-2025
Version number3