ID   WG3480
AC   CVCL_B3WX
DR   Wikidata; Q110434332
RX   CelloPub=CLPUB00668;
RX   PubMed=19058814;
RX   PubMed=19370762;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian and Chinese.
CC   Sequence variation: Mutation; HGNC; 24525; MMACHC; Simple; p.Arg91Lysfs*14 (c.271dupA); ClinVar=VCV000001421; Zygosity=Heterozygous (CelloPub=CLPUB00668; PubMed=19370762).
CC   Sequence variation: Mutation; HGNC; 24525; MMACHC; Simple; p.Arg161Gln (c.482G>A); ClinVar=VCV000001425; Zygosity=Heterozygous (CelloPub=CLPUB00668; PubMed=19370762).
CC   Miscellaneous: Cell line no longer available.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C142174; Methylmalonic aciduria and homocystinuria, cblC type
DI   ORDO; Orphanet_79282; Methylmalonic acidemia with homocystinuria, type cblC
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Children
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
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=19058814; DOI=10.1016/j.jpeds.2008.10.043;
RA   Miousse I.R., Watkins D., Coelho D., Rupar T., Crombez E.A.,
RA   Vilain E., Bernstein J.A., Cowan T., Lee-Messer C., Enns G.M.,
RA   Fowler B., Rosenblatt D.S.;
RT   "Clinical and molecular heterogeneity in patients with the cblD inborn
RT   error of cobalamin metabolism.";
RL   J. Pediatr. 154:551-556(2009).
//
RX   PubMed=19370762; DOI=10.1002/humu.21001;
RA   Lerner-Ellis J.P., Anastasio N., Liu J.-H., Coelho D., Suormala T.,
RA   Stucki M., Loewy A.D., Gurd S., Grundberg E., Morel C.F., Watkins D.,
RA   Baumgartner M.R., Pastinen T., Rosenblatt D.S., Fowler B.;
RT   "Spectrum of mutations in MMACHC, allelic expression, and evidence for
RT   genotype-phenotype correlations.";
RL   Hum. Mutat. 30:1072-1081(2009).
//