Cellosaurus cell line WG3733 (CVCL

Cross-references
Cell line name	WG3733
Accession	CVCL_B3Y7
Resource Identification Initiative	To cite this cell line use: WG3733 (RRID:CVCL_B3Y7)
Comments	From: Montreal Children's Hospital cell repository; Montreal; Canada. Population: Caucasian. 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:16692; CD320; Simple; p.Glu88del (c.256GAG[2]) (c.262_264delGAG); ClinVar=VCV000203643; Zygosity=Homozygous (PubMed=20524213).
Disease	Methylmalonic acidemia, TcblR type (NCIt: C183527) Methylmalonic aciduria due to transcobalamin receptor defect (ORDO: Orphanet_280183)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Age at sampling	Children
Category	Finite cell line
Publications	PubMed=20524213; DOI=10.1002/humu.21297; PMCID=PMC2909035 Edward Valerian Quadros, Shao-Chiang Lai, Yasumi Nakayama, Jeffrey M. Sequeira, Luciana Hannibal, Si-He Wang, Donald W. Jacobsen, Sergey Fedosov, Erica Wright, Renata C. Gallagher, Natascia Anastasio ...Show all 13 authors... , David Watkins, David S. Rosenblatt; Show fewer authors Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). Hum. Mutat. 31:924-929(2010)
Encyclopedic resources	Wikidata; Q110434379
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	5