ID   WG3191
AC   CVCL_B4BP
DR   Wikidata; Q110434275
RX   PubMed=16281286;
RX   PubMed=19058814;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Asp244Leufs*39 (c.729_730insTT); ClinVar=VCV000552079; Zygosity=Heterozygous (PubMed=16281286).
CC   Sequence variation: Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Leu305Ser (c.914T>C); ClinVar=VCV000556865; Zygosity=Heterozygous (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   Children
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
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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).
//
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).
//