ID   WG3514
AC   CVCL_B3WZ
DR   Wikidata; Q110434341
RX   CelloPub=CLPUB00668;
RX   PubMed=19370762;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian; Italian and Hispanic.
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.Tyr222Ter (c.666C>A); ClinVar=VCV000496436; 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   Male
AG   Children
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
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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=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).
//