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Cellosaurus KOLF2.1J TARDBP M337V SNV/WT (CVCL_E4SF)

[Text version]
Cell line name KOLF2.1J TARDBP M337V SNV/WT
Synonyms JIPSC001108
Accession CVCL_E4SF
Resource Identification Initiative To cite this cell line use: KOLF2.1J TARDBP M337V SNV/WT (RRID:CVCL_E4SF)
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:11571; TARDBP; Simple_edited; p.Met337Val (c.1009A>G); ClinVar=VCV000005228; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (JAX).
Disease Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia (NCIt: C168752)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B5P3 (KOLF2.1J)
Children:
CVCL_E4SD (KOLF2.1J TARDBP M337V REV/WT)
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/JIPSC001108
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1