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Cellosaurus KOLF2.1J CACNA1A R583Q SNV/SNV (CVCL_E7JP)

[Text version]
Cell line name KOLF2.1J CACNA1A R583Q SNV/SNV
Synonyms JIPSC001270
Accession CVCL_E7JP
Resource Identification Initiative To cite this cell line use: KOLF2.1J CACNA1A R583Q SNV/SNV (RRID:CVCL_E7JP)
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:1388; CACNA1A; Simple_edited; p.Arg582Gln (c.1745G>A) (p.Arg583Gln, c.1748G>A); ClinVar=VCV000008505; Zygosity=Homozygous; Note=By CRISPR/Cas9 (JAX).
  • 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 Episodic ataxia type 2 (NCIt: C202603)
Familial hemiplegic migraine-1 (NCIt: C189277)
Familial paroxysmal ataxia (ORDO: Orphanet_97)
Familial or sporadic hemiplegic migraine (ORDO: Orphanet_569)
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; JIPSC001270; https://www.jax.org/jax-mice-and-services/ipsc/cells-collection/JIPSC001270
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1