ID   MCH065
AC   CVCL_U490
SY   MCH 065; MCH 65; MCH65; M65
DR   Wikidata; Q54904499
RX   CelloPub=CLPUB00453;
RX   CelloPub=CLPUB00668;
RX   PubMed=2705457;
RX   PubMed=20524213;
RX   PubMed=20876107;
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   Female
AG   3Y6M
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 10
//
RX   CelloPub=CLPUB00453;
RA   Boright A.P.;
RT   "Prolidase deficiency: studies in human dermal fibroblasts.";
RL   Thesis PhD (1988); 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   PubMed=2705457; PMCID=PMC1715628;
RA   Boright A.P., Scriver C.R., Lancaster G.A., Choy F.Y.-M.;
RT   "Prolidase deficiency: biochemical classification of alleles.";
RL   Am. J. Hum. Genet. 44:731-740(1989).
//
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).
//
RX   PubMed=20876107; DOI=10.1073/pnas.1004487107; PMCID=PMC2955112;
RA   Chamberlain S.J., Chen I.P.-F., Ng K.Y., Bourgois-Rocha F.,
RA   Lemtiri-Chlieh F., Levine E.S., Lalande M.;
RT   "Induced pluripotent stem cell models of the genomic imprinting
RT   disorders Angelman and Prader-Willi syndromes.";
RL   Proc. Natl. Acad. Sci. U.S.A. 107:17668-17673(2010).
//