Cellosaurus cell line WG3496 (CVCL

Cross-references
Cell line name	WG3496
Accession	CVCL_B3XH
Resource Identification Initiative	To cite this cell line use: WG3496 (RRID:CVCL_B3XH)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Hispanic. 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 (PubMed=19370762). Mutation; HGNC; HGNC:24525; MMACHC; Simple; p.Tyr205Ter (c.615C>G); ClinVar=VCV000281007; Zygosity=Heterozygous (PubMed=19370762).
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)
Sex of cell	Female
Age at sampling	Children
Category	Finite cell line
Publications	PubMed=19370762; DOI=10.1002/humu.21001 Lerner-Ellis J.P., Anastasio N., Liu J.-H., Coelho D., Suormala T., Stucki M., Loewy A.D., Gurd S., Grundberg E., Morel C.F., Watkins D., Baumgartner M.R., Pastinen T., Rosenblatt D.S., Fowler B. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Hum. Mutat. 30:1072-1081(2009)
Encyclopedic resources	Wikidata; Q110434337
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5