Cellosaurus cell line KOLF2.1J PANK2 C.1413-1G>T SNV/SNV (CVCL

Cellosaurus KOLF2.1J PANK2 C.1413-1G>T SNV/SNV (CVCL_E4W7)

[Text version]

Cell line name

KOLF2.1J PANK2 C.1413-1G>T SNV/SNV

Synonyms

JIPSC002032

Accession

CVCL_E4W7

Resource Identification Initiative

To cite this cell line use: KOLF2.1J PANK2 C.1413-1G>T SNV/SNV (RRID:CVCL_E4W7)

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:15894; PANK2; Simple_edited; c.1413-1G>T; ClinVar=VCV000004559; Zygosity=Homozygous; Note=By CRISPR/Cas9. Splice acceptor mutation (JAX).

Disease

Pantothenate kinase-associated neurodegeneration (NCIt: C84988)
Atypical pantothenate kinase-associated neurodegeneration (ORDO: Orphanet_216873)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Parent: CVCL_B5P3 (KOLF2.1J)
Children:

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

Sex of cell

Male

Age at sampling

55-59Y