Cellosaurus cell line WG3838 (CVCL

Cellosaurus WG3838 (CVCL_B4K5)

Cross-references
Cell line name	WG3838
Synonyms	WG-3838
Accession	CVCL_B4K5
Resource Identification Initiative	To cite this cell line use: WG3838 (RRID:CVCL_B4K5)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Japanese and Korean. Miscellaneous: Cell line no longer available. Caution: The mutation indicated in PubMed=29302025 for MMACHC (c.81G>A) is incorrect. The correct mutation is c.80G>A (personal communication of Rosenblatt, David S.). 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.Gln27Arg (c.80A>G); ClinVar=VCV000552467; Zygosity=Heterozygous (PubMed=29302025). Mutation; HGNC; HGNC:9352; PRDX1; Simple; c.515-2A>T; ClinVar=VCV000495210; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=29302025).
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	1-2M
Category	Finite cell line
Publications	PubMed=29302025; DOI=10.1038/s41467-017-02306-5; PMCID=PMC5754367 Gueant J.-L., Chery C., Oussalah A., Nadaf J., Coelho D., Josse T., Flayac J., Robert A., Koscinski I., Gastin I., Filhine-Tresarrieu P., Pupavac M., Brebner A., Watkins D., Pastinen T., Montpetit A., Hariri F., Tregouet D.-A., Raby B.A., Chung W.K., Morange P.-E., Froese D.S., Baumgartner M.R., Benoist J.-F., Ficicioglu C., Marchand V., Motorin Y., Bonnemains C., Feillet F., Majewski J., Rosenblatt D.S. A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat. Commun. 9:67.1-67.12(2018)
Encyclopedic resources	Wikidata; Q110434387
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	7