Cellosaurus cell line (CVCL

Entry history
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Arab; Saudi Arabian and Turkish. Omics: Genomics; Whole genome sequencing. Omics: Transcriptomics; RNAseq. Miscellaneous: Cell line no longer available. Misspelling: WG3123; PubMed=31462756; Note=In table 1. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4839; HCFC1; Simple; p.Pro1492Leu (c.4475C>T); ClinVar=VCV002432377; Zygosity=Heterozygous (CelloPub=CLPUB00669; PubMed=27233228; PubMed=31462756).
Disease	Methylmalonic acidemia (NCIt: C98986) Methylmalonic acidemia without homocystinuria (ORDO: Orphanet_293355)
Species of origin	Cricetulus griseus (Chinese hamster) (Cricetulus barabensis griseus) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	4M
Category	Finite cell line
Publications	Three novel mutations responsible for Cockayne syndrome group A. Genes Genet. Syst. 78:93-102(2003)
Entry creation	16-Dec-2021
Last entry update	10-Apr-2025
Version number	6