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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, Canada

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

PubMed=20524213; DOI=10.1002/humu.21297
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, Canada

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