Cellosaurus cell line KOLF2.1J RNF216 R694C SNV/SNV (CVCL

Cellosaurus KOLF2.1J RNF216 R694C SNV/SNV (CVCL_E4UX)

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Cell line name

KOLF2.1J RNF216 R694C SNV/SNV

Synonyms

JIPSC003076

Accession

CVCL_E4UX

Resource Identification Initiative

To cite this cell line use: KOLF2.1J RNF216 R694C SNV/SNV (RRID:CVCL_E4UX)

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:21698; RNF216; Simple_edited; p.Arg694Cys (c.2080C>T) (p.Arg751Cys, c.2251C>T); ClinVar=VCV000050912; Zygosity=Homozygous; Note=By CRISPR/Cas9 (JAX).

Disease

Gordon Holmes syndrome (NCIt: C205640)
Cerebellar ataxia-hypogonadism syndrome (ORDO: Orphanet_1173)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Parent: CVCL_B5P3 (KOLF2.1J)
Children:

CVCL_E4UW (KOLF2.1J RNF216 R694C REV/REV)

Sex of cell

Male

Age at sampling

55-59Y