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Cellosaurus WG3733 (CVCL_B3Y7)

[Text version]
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
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
Quadros E.V., Lai S.-C., Nakayama Y., Sequeira J.M., Hannibal L., Wang S.-H., Jacobsen D.W., Fedosov S., Wright E., Gallagher R.C., Anastasio N., Watkins D., Rosenblatt D.S.
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)

Cross-references
Encyclopedic resources Wikidata; Q110434379
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5