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

Entry history
Cell line name	KOLF2.1J RNF216 R694C SNV/WT
Synonyms	JIPSC003078
Accession	CVCL_E4UY
Resource Identification Initiative	To cite this cell line use: KOLF2.1J RNF216 R694C SNV/WT (RRID:CVCL_E4UY)
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=Heterozygous; 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)
Sex of cell	Male
Age at sampling	55-59Y
Category	Induced pluripotent stem cell
Web pages	https://www.jax.org/jax-mice-and-services/ipsc/cells-collection/JIPSC003078
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1