Cellosaurus cell line WG2339 (CVCL

Cross-references
Cell line name	WG2339
Accession	CVCL_B3WR
Resource Identification Initiative	To cite this cell line use: WG2339 (RRID:CVCL_B3WR)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. 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:24525; MMACHC; Simple; p.Arg91Lysfs*14 (c.271dupA); ClinVar=VCV000001421; Zygosity=Heterozygous (CelloPub=CLPUB00668). Mutation; HGNC; HGNC:24525; MMACHC; Simple; p.Arg161Gln (c.482G>A); ClinVar=VCV000001425; Zygosity=Heterozygous (CelloPub=CLPUB00668).
Disease	Methylmalonic aciduria and homocystinuria, cblC type (NCIt: C142174) Methylmalonic acidemia with homocystinuria, type cblC (ORDO: Orphanet_79282)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Finite cell line
Publications	CLPUB00668 Natascia Anastasio; Allelic expression of MMACHC and evidence for genotype-phenotype correlations in cblC disease. Thesis MSc (2010); McGill University Montreal; Montreal; Canada
Encyclopedic resources	Wikidata; Q110434113
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5