ID   WG3646
AC   CVCL_B4F7
DR   Wikidata; Q110434362
RX   CelloPub=CLPUB00670;
RX   PubMed=22832074;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Mexican.
CC   Sequence variation: Mutation; HGNC; 25221; MMADHC; Simple; p.Ser228Ter (c.683C>G); Zygosity=Homozygous (from autologous cell line WG3583).
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; C183524; Methylmalonic aciduria and homocystinuria, cblD type
DI   ORDO; Orphanet_79283; Methylmalonic acidemia with homocystinuria, type cblD
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_B4EQ ! WG3583
SX   Female
AG   Children
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 5
//
RX   CelloPub=CLPUB00670;
RA   Kim J.C.;
RT   "Novel inborn error of vitamin B12 metabolism caused by mutations in
RT   ABCD4.";
RL   Thesis MSc (2012); McGill University Montreal; Montreal; Canada.
//
RX   PubMed=22832074; DOI=10.1016/j.ymgme.2012.07.001;
RA   Deme J.C., Miousse I.R., Plesa M., Kim J.C., Hancock M.A., Mah W.,
RA   Rosenblatt D.S., Coulton J.W.;
RT   "Structural features of recombinant MMADHC isoforms and their
RT   interactions with MMACHC, proteins of mammalian vitamin B12
RT   metabolism.";
RL   Mol. Genet. Metab. 107:352-362(2012).
//