Cellosaurus cell line WG3086 (CVCL

Cross-references
Cell line name	WG3086
Accession	CVCL_B3Z4
Resource Identification Initiative	To cite this cell line use: WG3086 (RRID:CVCL_B3Z4)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Omics: Genome sequenced. Omics: Transcriptome analysis by RNAseq. Miscellaneous: Cell line no longer available. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2548; CUBN; Simple; p.Ser865Asn (c.2594G>A); ClinVar=VCV000265086; Zygosity=Heterozygous (PubMed=31462756). Mutation; HGNC; HGNC:2548; CUBN; Simple; p.Asn2157Asp (c.6469A>G); ClinVar=VCV000695565; Zygosity=Heterozygous (PubMed=31462756).
Disease	Methylmalonic acidemia (NCIt: C98986) Methylmalonic acidemia without homocystinuria (ORDO: Orphanet_293355)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	9M
Category	Finite cell line
Publications	PubMed=31462756; DOI=10.1038/s41436-019-0640-9 Abdrabo L.S., Watkins D., Wang S.R., Lafond-Lapalme J., Riviere J.-B., Rosenblatt D.S. Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause. Genet. Med. 22:432-436(2020)
Encyclopedic resources	Wikidata; Q110434253
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5