ID   WG1599
AC   CVCL_QZ08
SY   WG 1599; Yale 378
DR   Wikidata; Q54993890
RX   PubMed=7909321;
RX   PubMed=9285782;
RX   PubMed=16281286;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Arg108Gly (c.322C>G); ClinVar=VCV001499832; Zygosity=Heterozygous (PubMed=16281286).
CC   Sequence variation: Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Arg369His (c.1106G>A); ClinVar=VCV000203846; Zygosity=Heterozygous (PubMed=7909321; PubMed=9285782; 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   Sex unspecified
AG   Age unspecified
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 12
//
RX   PubMed=7909321; DOI=10.1172/JCI117166; PMCID=PMC294249;
RA   Qureshi A.A., Crane A.M., Matiaszuk N.V., Rezvani I., Ledley F.D.,
RA   Rosenblatt D.S.;
RT   "Cloning and expression of mutations demonstrating intragenic
RT   complementation in mut0 methylmalonic aciduria.";
RL   J. Clin. Invest. 93:1812-1819(1994).
//
RX   PubMed=9285782; DOI=10.1093/hmg/6.9.1457;
RA   Janata J., Kogekar N., Fenton W.A.;
RT   "Expression and kinetic characterization of methylmalonyl-CoA mutase
RT   from patients with the mut- phenotype: evidence for naturally
RT   occurring interallelic complementation.";
RL   Hum. Mol. Genet. 6:1457-1464(1997).
//
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).
//