Cellosaurus cell line WG3332 (CVCL

Cross-references
Cell line name	WG3332
Accession	CVCL_B3UJ
Resource Identification Initiative	To cite this cell line use: WG3332 (RRID:CVCL_B3UJ)
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:19331; MMAB; Simple; c.291-1G>A; ClinVar=VCV000219004; Zygosity=Heterozygous; Note=Splice acceptor mutation (CelloPub=CLPUB00662). Mutation; HGNC; HGNC:19331; MMAB; Simple; p.Gln234Ter (c.700C>T); ClinVar=VCV000203820; Zygosity=Heterozygous (CelloPub=CLPUB00662).
Disease	Methylmalonic aciduria, cblB type (NCIt: C142172) Vitamin B12-responsive methylmalonic acidemia type cblB (ORDO: Orphanet_79311)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Finite cell line
Publications	CLPUB00662 Lama Yamani; Studies on transcobalamin in cultured fibroblasts from patients with inborn errors of cobalamin metabolism. Thesis PhD (2008); McGill University Montreal; Montreal; Canada
Encyclopedic resources	Wikidata; Q110434304
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5