ID   WG1958
AC   CVCL_B3WM
DR   Wikidata; Q110434077
RX   CelloPub=CLPUB00668;
RX   PubMed=9554742;
RX   PubMed=16281286;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 7526; MMUT; Simple; p.Leu685Arg (c.2054T>G); ClinVar=VCV000218995; Zygosity=Homozygous (PubMed=9554742; PubMed=16281286).
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; C148366; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
DI   ORDO; Orphanet_27; Vitamin B12-unresponsive methylmalonic acidemia
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=9554742; DOI=10.1002/(SICI)1098-1004(1998)11:4<270::AID-HUMU3>3.0.CO;2-T;
RA   Adjalla C.-E., Hosack A.R., Gilfix B.M., Lamothe E., Sun S., Chan A.,
RA   Evans S., Matiaszuk N.V., Rosenblatt D.S.;
RT   "Seven novel mutations in mut methylmalonic aciduria.";
RL   Hum. Mutat. 11:270-274(1998).
//
RX   PubMed=16281286; DOI=10.1002/humu.20258;
RA   Worgan L.C., Niles K., Tirone J.C., Hofmann A., Verner A., Sammak A.,
RA   Kucic T., Lepage P., Rosenblatt D.S.;
RT   "Spectrum of mutations in mut methylmalonic acidemia and
RT   identification of a common Hispanic mutation and haplotype.";
RL   Hum. Mutat. 27:31-43(2006).
//