Cellosaurus cell line KOLF2.1J GBA1 D448V SNV/WT (CVCL

Cellosaurus KOLF2.1J GBA1 D448V SNV/WT (CVCL_E4VX)

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Cell line name

KOLF2.1J GBA1 D448V SNV/WT

Synonyms

JIPSC001192

Accession

CVCL_E4VX

Resource Identification Initiative

To cite this cell line use: KOLF2.1J GBA1 D448V SNV/WT (RRID:CVCL_E4VX)

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:4177; GBA1; Simple_edited; p.Asp448Val (c.1343A>T) (D409V); ClinVar=VCV000004294; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (JAX).

Disease

Gaucher disease (NCIt: C61268)
Gaucher disease (ORDO: Orphanet_355)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Parent: CVCL_B5P3 (KOLF2.1J)
Children:

CVCL_E4VV (KOLF2.1J GBA1 D448V REV/WT)

Sex of cell

Male

Age at sampling

55-59Y