ID   MCH064
AC   CVCL_U489
SY   MCH 064; MCH 64; MCH64; M64
DR   Wikidata; Q54904498
RX   CelloPub=CLPUB00662;
RX   CelloPub=CLPUB00668;
RX   CelloPub=CLPUB00670;
RX   PubMed=20524213;
WW   https://web.archive.org/web/20070627165036/http://www.cellbank.mcgill.ca:80/cgi-bin/cellbank/allnormals.cgi
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2M
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 10
//
RX   CelloPub=CLPUB00662;
RA   Yamani L.;
RT   "Studies on transcobalamin in cultured fibroblasts from patients with
RT   inborn errors of cobalamin metabolism.";
RL   Thesis PhD (2008); McGill University Montreal; Montreal; Canada.
//
RX   CelloPub=CLPUB00668;
RA   Anastasio N.;
RT   "Allelic expression of MMACHC and evidence for genotype-phenotype
RT   correlations in cblC disease.";
RL   Thesis MSc (2010); McGill University Montreal; Montreal; Canada.
//
RX   CelloPub=CLPUB00670;
RA   Kim J.C.;
RT   "Novel inborn error of vitamin B12 metabolism caused by mutations in
RT   ABCD4.";
RL   Thesis MSc (2012); McGill University Montreal; Montreal; Canada.
//
RX   PubMed=20524213; DOI=10.1002/humu.21297; PMCID=PMC2909035;
RA   Quadros E.V., Lai S.-C., Nakayama Y., Sequeira J.M., Hannibal L.,
RA   Wang S.-H., Jacobsen D.W., Fedosov S., Wright E., Gallagher R.C.,
RA   Anastasio N., Watkins D., Rosenblatt D.S.;
RT   "Positive newborn screen for methylmalonic aciduria identifies the
RT   first mutation in TCblR/CD320, the gene for cellular uptake of
RT   transcobalamin-bound vitamin B(12).";
RL   Hum. Mutat. 31:924-929(2010).
//