ID   WG0497
AC   CVCL_B4C9
DR   Wikidata; Q110434007
RX   PubMed=16281286;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:7526; MMUT; Simple; c.753+2T>A; ClinVar=VCV000203856; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=16281286).
CC   Sequence variation: Mutation; HGNC; HGNC:7526; MMUT; Simple; c.1332+1delG; ClinVar=VCV000554656; Zygosity=Heterozygous; Note=Splice donor mutation (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)
AG   Age unspecified
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
//
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).
//