Cellosaurus cell line KOLF2.1J CACNA1A R583Q SNV/WT (CVCL

Cellosaurus KOLF2.1J CACNA1A R583Q SNV/WT (CVCL_E7JQ)

[Text version]

Cell line name

KOLF2.1J CACNA1A R583Q SNV/WT

Synonyms

JIPSC001272

Accession

CVCL_E7JQ

Resource Identification Initiative

To cite this cell line use: KOLF2.1J CACNA1A R583Q SNV/WT (RRID:CVCL_E7JQ)

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=Heterozygous; 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)
Children:

CVCL_E7JN (KOLF2.1J CACNA1A R583Q REV/WT)

Sex of cell

Male

Age at sampling

55-59Y