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; HGNC:25221; MMADHC; Simple; p.Ser228Ter (c.683C>G); ClinVar=VCV002507317; 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: 27-11-25; Version: 7
//
RX   CelloPub=CLPUB00670;
RA   Kim, Jaeseung 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, Justin C.
RA   Miousse, Isabelle Racine
RA   Plesa, Maria
RA   Kim, Jaeseung C.
RA   Hancock, Mark A.
RA   Mah, Wayne
RA   Rosenblatt, David S.
RA   Coulton, James 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).
//