ID   WG3140
AC   CVCL_B4AQ
DR   Wikidata; Q110434266
RX   PubMed=16281286;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Gly94Val (c.281G>T); ClinVar=VCV000657887; Zygosity=Heterozygous (PubMed=16281286).
CC   Sequence variation: Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Thr370Pro (c.1108A>C); ClinVar=VCV000203847; 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
//
RX   PubMed=16281286; DOI=10.1002/humu.20258;
RA   Worgan, Lisa C.
RA   Niles, Kirsten
RA   Tirone, Jamie C.
RA   Hofmann, Adam
RA   Verner, Andrei
RA   Sammak, Alya'a
RA   Kucic, Terrence
RA   Lepage, Pierre
RA   Rosenblatt, David 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).
//