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Cellosaurus MCH064 (CVCL_U489)

[Text version]
Cell line name MCH064
Synonyms MCH 064; MCH 64; MCH64; M64
Accession CVCL_U489
Resource Identification Initiative To cite this cell line use: MCH064 (RRID:CVCL_U489)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2M
Category Finite cell line
Web pages https://web.archive.org/web/20070627165036/http://www.cellbank.mcgill.ca:80/cgi-bin/cellbank/allnormals.cgi
Publications

CLPUB00662
Yamani L.
Studies on transcobalamin in cultured fibroblasts from patients with inborn errors of cobalamin metabolism.
Thesis PhD (2008); McGill University Montreal; Montreal; Canada

CLPUB00668
Anastasio N.
Allelic expression of MMACHC and evidence for genotype-phenotype correlations in cblC disease.
Thesis MSc (2010); McGill University Montreal; Montreal; Canada

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)

CLPUB00670
Kim J.C.
Novel inborn error of vitamin B12 metabolism caused by mutations in ABCD4.
Thesis MSc (2012); McGill University Montreal; Montreal; Canada

Cross-references
Encyclopedic resources Wikidata; Q54904498
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number10