ID   WG2176
AC   CVCL_UI02
DR   Wikidata; Q98134911
RX   PubMed=19447654;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:24525; MMACHC; Simple; c.1-234A>G; Zygosity=Heterozygous (PubMed=19447654).
CC   Sequence variation: Mutation; HGNC; HGNC:24525; MMACHC; Simple; p.Trp203Ter (c.609G>A); ClinVar=VCV000030800; Zygosity=Heterozygous (PubMed=19447654).
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; C142174; Methylmalonic aciduria and homocystinuria, cblC type
DI   ORDO; Orphanet_79282; Methylmalonic acidemia with homocystinuria, type cblC
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7M
CA   Finite cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=19447654; DOI=10.1016/j.ymgme.2009.04.005; PMCID=PMC2709701;
RA   Hannibal L., Kim J., Brasch N.E., Wang S.-H., Rosenblatt D.S.,
RA   Banerjee R., Jacobsen D.W.;
RT   "Processing of alkylcobalamins in mammalian cells: a role for the
RT   MMACHC (cblC) gene product.";
RL   Mol. Genet. Metab. 97:260-266(2009).
//