Cellosaurus KOLF2.1J CACNA1A R583Q REV/WT (CVCL_E7JN)
Cell line name | KOLF2.1J CACNA1A R583Q REV/WT |
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Synonyms | JIPSC001290 |
Accession | CVCL_E7JN |
Resource Identification Initiative | To cite this cell line use: KOLF2.1J CACNA1A R583Q REV/WT (RRID:CVCL_E7JN) |
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 CACNA1A p.Arg582Gln (c.1745G>A) (p.Arg583Gln, c.1748G>A) cell line (JAX=JIPSC001290). Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620. |
Sequence variations |
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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_E7JQ (KOLF2.1J CACNA1A R583Q SNV/WT) |
Sex of cell | Male |
Age at sampling | 55-59Y |
Category | Induced pluripotent stem cell |
Web pages | Provider; JAX; JIPSC001290; https://www.jax.org/jax-mice-and-services/ipsc/cells-collection/JIPSC001290 |
Entry history | |
Entry creation | 10-Apr-2025 |
Last entry update | 10-Apr-2025 |
Version number | 1 |